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Gene: TRAPPC9 (trafficking protein particle complex subunit 9) Homo sapiens

Analyze

Symbol:

TRAPPC9

Name:

trafficking protein particle complex subunit 9

RGD ID:

1605926

HGNC Page

HGNC:30832

Description:

Involved in cerebral cortex development. Part of TRAPP complex. Implicated in autosomal recessive intellectual developmental disorder 13.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

IBP; IKBKBBP; IKK2 binding protein; KIAA1882; MGC4737; MGC4769; MRT13; NIBP; NIK and IKK-beta binding protein; NIK- and IKBKB-binding protein; T1; trafficking protein particle complex 9; TRAPP 120 kDa subunit; TRS120; tularik gene 1 protein

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	139,727,725 - 140,458,579 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	139,727,725 - 140,458,579 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	140,739,968 - 141,468,678 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	140,811,770 - 141,537,860 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	136,910,795 - 137,637,626 (-)	NCBI		Celera
Cytogenetic Map	8	q24.3	NCBI
HuRef	8	136,053,781 - 136,779,850 (-)	NCBI		HuRef
CHM1_1	8	140,782,787 - 141,509,239 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	140,847,842 - 141,578,742 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (IAGP)

autosomal recessive intellectual developmental disorder 13 (EXP,IAGP)

genetic disease (IAGP)

intellectual disability (IAGP,ISS)

Nervous System Malformations (IAGP)

schizophrenia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

3-methylcholanthrene (EXP)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

aflatoxin B1 (EXP,ISO)

Aflatoxin B2 alpha (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

atrazine (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[e]pyrene (EXP)

beta-lapachone (EXP)

bis(2-chloroethyl) sulfide (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

butanal (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

chlorpyrifos (ISO)

chromium(6+) (EXP)

cisplatin (EXP,ISO)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

dexamethasone (EXP)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dicrotophos (EXP)

doxorubicin (EXP)

flutamide (ISO)

folic acid (ISO)

FR900359 (EXP)

fulvestrant (EXP)

gallic acid (EXP)

indometacin (EXP)

ivermectin (EXP)

MeIQx (EXP)

methapyrilene (EXP)

methoxychlor (ISO)

methyl methanesulfonate (EXP)

N-Nitrosopyrrolidine (EXP)

niclosamide (EXP)

nitrates (ISO)

Nor-9-carboxy-delta9-THC (EXP)

O-methyleugenol (EXP)

ozone (EXP)

paracetamol (EXP)

PhIP (EXP,ISO)

potassium chromate (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

sodium fluoride (ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IEA)

cerebral cortex development (IMP)

endoplasmic reticulum to Golgi vesicle-mediated transport (NAS)

neuron differentiation (IEA,ISO)

positive regulation of NF-kappaB transcription factor activity (ISO)

vesicle coating (NAS)

vesicle tethering (NAS)

Cellular Component

cytoplasm (IEA,NAS)

cytosol (TAS)

early endosome (ISO)

endoplasmic reticulum (IEA)

Golgi apparatus (IEA,ISO)

late endosome (ISO)

trans-Golgi network (IBA)

TRAPP complex (IDA)

TRAPPII protein complex (NAS)

Molecular Function

protein binding (IPI,ISO)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal brain morphology (IAGP)

Abnormal cerebral white matter morphology (IAGP)

Abnormal facial shape (IAGP)

Abnormal pinna morphology (IAGP)

Abnormality of the nervous system (IAGP)

Autistic behavior (IAGP)

Autosomal recessive inheritance (IAGP)

Brachycephaly (IAGP)

Bruxism (IAGP)

Cerebellar hypoplasia (IAGP)

Cerebral cortical atrophy (IAGP)

Cleft upper lip (IAGP)

Clinodactyly of the 5th finger (IAGP)

Congenital hypothyroidism (IAGP)

Congenital stationary night blindness (IAGP)

Delayed ability to walk (IAGP)

Delayed speech and language development (IAGP)

Downturned corners of mouth (IAGP)

Epicanthus (IAGP)

Generalized myoclonic seizure (IAGP)

Global developmental delay (IAGP)

Horizontal eyebrow (IAGP)

Hyperactivity (IAGP)

Hypertelorism (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Hypotelorism (IAGP)

Hypotonia (IAGP)

Infantile onset (IAGP)

Inferior cerebellar vermis hypoplasia (IAGP)

Intellectual disability (IAGP)

Intellectual disability, severe (IAGP)

Large fleshy ears (IAGP)

Malignant hyperthermia (IAGP)

Microcephaly (IAGP)

Mild microcephaly (IAGP)

Multifocal cerebral white matter abnormalities (IAGP)

Narrow forehead (IAGP)

Obesity (IAGP)

Recurrent hand flapping (IAGP)

Round face (IAGP)

Schizophrenia (IAGP)

Secondary microcephaly (IAGP)

Seizure (IAGP)

Short neck (IAGP)

Short philtrum (IAGP)

Slender finger (IAGP)

Smooth philtrum (IAGP)

Synophrys (IAGP)

Tapered finger (IAGP)

Thin upper lip vermilion (IAGP)

Truncal obesity (IAGP)

Underdeveloped supraorbital ridges (IAGP)

Wide nasal bridge (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:11572484	PMID:12477932	PMID:14702039	PMID:15951441	PMID:16344560	PMID:19724895	PMID:19851296	PMID:20004763	PMID:20004764	PMID:20004765	PMID:20018008	PMID:20198315
PMID:20379614	PMID:20966969	PMID:21244100	PMID:21273506	PMID:21513506	PMID:21525244	PMID:21629298	PMID:21704414	PMID:21858081	PMID:21873635	PMID:22279557	PMID:22549410
PMID:22658674	PMID:22912676	PMID:22952603	PMID:22989526	PMID:23022380	PMID:23077036	PMID:23251661	PMID:23412934	PMID:23474757	PMID:24040793	PMID:24255178	PMID:24667089
PMID:24776741	PMID:24980697	PMID:25018876	PMID:25189868	PMID:25704885	PMID:25921289	PMID:26186194	PMID:26496610	PMID:26596835	PMID:27066478	PMID:27108886	PMID:27109343
PMID:27173435	PMID:28125661	PMID:28319085	PMID:28514442	PMID:28611215	PMID:29031008	PMID:29187737	PMID:29449217	PMID:29507755	PMID:29568061	PMID:29620292	PMID:30209976
PMID:30833792	PMID:31586073	PMID:32046534	PMID:32877400	PMID:33513295	PMID:33921338	PMID:33961781	PMID:34079125	PMID:34159380	PMID:34369648	PMID:34709727	PMID:34737153
PMID:35140242	PMID:35271311	PMID:35384245	PMID:35697692	PMID:35748872	PMID:35760056	PMID:35831314	PMID:36931259	PMID:38467738

Genomics

Comparative Map Data

TRAPPC9
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	139,727,725 - 140,458,579 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	139,727,725 - 140,458,579 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	140,739,968 - 141,468,678 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	140,811,770 - 141,537,860 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	136,910,795 - 137,637,626 (-)	NCBI		Celera
Cytogenetic Map	8	q24.3	NCBI
HuRef	8	136,053,781 - 136,779,850 (-)	NCBI		HuRef
CHM1_1	8	140,782,787 - 141,509,239 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	140,847,842 - 141,578,742 (-)	NCBI		T2T-CHM13v2.0

Trappc9
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	72,461,469 - 72,933,086 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	72,461,469 - 72,933,053 (-)	Ensembl		GRCm39 Ensembl
GRCm38	15	72,589,620 - 73,061,238 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	72,589,620 - 73,061,204 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	72,420,050 - 72,891,634 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	73,046,993 - 73,518,251 (-)	NCBI		MGSCv36	mm8
MGSCv36	15	72,416,876 - 72,888,460 (-)	NCBI		MGSCv36	mm8
Celera	15	74,088,714 - 74,562,121 (-)	NCBI		Celera
Cytogenetic Map	15	D3	NCBI
cM Map	15	33.7	NCBI

Trappc9
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	106,410,339 - 106,887,364 (-)	NCBI		GRCr8
mRatBN7.2	7	104,521,593 - 104,998,352 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	104,521,593 - 104,998,352 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	106,265,280 - 106,740,483 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	108,486,858 - 108,962,072 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	108,434,908 - 108,910,101 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	113,986,363 - 114,309,090 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	113,681,793 - 114,305,896 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	113,923,437 - 114,090,503 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Rnor_5.0	7	114,185,706 - 114,244,503 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Rnor_5.0	7	113,614,134 - 113,676,676 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	110,316,543 - 110,796,685 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	110,498,700 - 110,830,468 (-)	NCBI
Celera	7	100,935,899 - 101,408,042 (-)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Trappc9
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955461	13,498,671 - 14,124,227 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955461	13,498,088 - 14,130,159 (-)	NCBI	ChiLan1.0	ChiLan1.0

TRAPPC9
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	7	157,126,438 - 157,851,839 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	132,654,644 - 133,379,503 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	136,402,736 - 137,180,507 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	139,495,813 - 140,267,032 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	139,644,041 - 140,214,782 (-)	Ensembl	panpan1.1		panPan2

TRAPPC9
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	13	34,579,134 - 35,115,508 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	13	34,579,126 - 35,115,494 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	34,496,817 - 34,982,923 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	34,961,156 - 35,508,264 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	34,961,165 - 35,508,357 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	13	34,684,318 - 35,228,787 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	34,773,879 - 35,318,617 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	35,193,579 - 35,738,283 (-)	NCBI		UU_Cfam_GSD_1.0

Trappc9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405303	3,318,751 - 3,816,953 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936470	10,750,994 - 11,242,523 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936470	10,747,343 - 11,243,052 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TRAPPC9
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	3,065,234 - 3,533,669 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	3,065,254 - 3,533,670 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	2,565,763 - 3,021,011 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TRAPPC9
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	8	133,992,020 - 134,698,218 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	134,471,193 - 134,691,231 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666039	5,451,103 - 5,681,407 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Trappc9
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624735	15,897,425 - 16,661,208 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624735	15,898,189 - 16,661,799 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TRAPPC9
825 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001160372.4(TRAPPC9):c.2557-2A>C	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV000034319]	Chr8:140024081 [GRCh38] Chr8:141034178 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter)	single nucleotide variant	Abnormality of the nervous system [RCV001813926]\|Intellectual disability, autosomal recessive 13 [RCV000000794]\|not provided [RCV002512618]	Chr8:140397625 [GRCh38] Chr8:141407724 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)	single nucleotide variant	Inborn genetic diseases [RCV002512619]\|Intellectual disability, autosomal recessive 13 [RCV000000795]\|not provided [RCV000273297]	Chr8:140360131 [GRCh38] Chr8:141370230 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_001160372.4(TRAPPC9):c.2019_2022del (p.Leu674fs)	deletion	Intellectual disability, autosomal recessive 13 [RCV000000796]\|not provided [RCV003441699]	Chr8:140283981..140283984 [GRCh38] Chr8:141294080..141294083 [GRCh37] Chr8:8q24.3	pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	copy number gain	See cases [RCV000050830]	Chr8:128220912..145049449 [GRCh38] Chr8:129233158..146274835 [GRCh37] Chr8:129302340..146245639 [NCBI36] Chr8:8q24.21-24.3	pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	copy number gain	See cases [RCV000050638]	Chr8:113580402..145054634 [GRCh38] Chr8:114592631..146280020 [GRCh37] Chr8:114661807..146250824 [NCBI36] Chr8:8q23.3-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q24.3(chr8:140060745-140721324)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052820]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052820]\|See cases [RCV000052820]	Chr8:140060745..140721324 [GRCh38] Chr8:141070843..141731423 [GRCh37] Chr8:141140025..141800605 [NCBI36] Chr8:8q24.3	uncertain significance
GRCh38/hg38 8q24.3(chr8:140287451-140393615)x1	copy number loss	See cases [RCV000052821]	Chr8:140287451..140393615 [GRCh38] Chr8:141297550..141403714 [GRCh37] Chr8:141366732..141472896 [NCBI36] Chr8:8q24.3	uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]\|See cases [RCV000053677]	Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	copy number gain	See cases [RCV000053678]	Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3	pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]\|See cases [RCV000053701]	Chr8:139447227..145054775 [GRCh38] Chr8:140459470..146280161 [GRCh37] Chr8:140528652..146250965 [NCBI36] Chr8:8q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
NM_031466.6(TRAPPC9):c.2499C>T (p.Ile833=)	single nucleotide variant	Malignant melanoma [RCV000068177]	Chr8:140275731 [GRCh38] Chr8:141285830 [GRCh37] Chr8:141355012 [NCBI36] Chr8:8q24.3	not provided
NM_031466.6(TRAPPC9):c.1776C>T (p.Phe592=)	single nucleotide variant	Malignant melanoma [RCV000068178]	Chr8:140360063 [GRCh38] Chr8:141370162 [GRCh37] Chr8:141439344 [NCBI36] Chr8:8q24.3	not provided
NM_031466.6(TRAPPC9):c.2866C>T (p.Leu956=)	single nucleotide variant	Malignant melanoma [RCV000061763]	Chr8:140024064 [GRCh38] Chr8:141034161 [GRCh37] Chr8:141103343 [NCBI36] Chr8:8q24.3	not provided
NM_001160372.4(TRAPPC9):c.2571C>T (p.Val857=)	single nucleotide variant	Inborn genetic diseases [RCV002437618]	Chr8:140024065 [GRCh38] Chr8:141034162 [GRCh37] Chr8:141103344 [NCBI36] Chr8:8q24.3	likely benign\|not provided
NM_031466.6(TRAPPC9):c.3350-69202A>G	single nucleotide variant	Lung cancer [RCV000107199]	Chr8:139801404 [GRCh38] Chr8:140813647 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.6(TRAPPC9):c.3350-73369G>A	single nucleotide variant	Lung cancer [RCV000107200]	Chr8:139805571 [GRCh38] Chr8:140817814 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.6(TRAPPC9):c.2850+8819A>G	single nucleotide variant	Lung cancer [RCV000107201]	Chr8:140212640 [GRCh38] Chr8:141222739 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val)	single nucleotide variant	Inborn genetic diseases [RCV002313927]\|Intellectual Disability, Recessive [RCV000286252]\|Intellectual disability [RCV001252374]\|Intellectual disability, autosomal recessive 13 [RCV000764743]\|not provided [RCV000118658]\|not specified [RCV002464116]	Chr8:140397735 [GRCh38] Chr8:141407834 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=)	single nucleotide variant	Inborn genetic diseases [RCV002408623]\|Intellectual Disability, Recessive [RCV000331735]\|not provided [RCV000891519]\|not specified [RCV000118660]	Chr8:140360138 [GRCh38] Chr8:141370237 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=)	single nucleotide variant	Inborn genetic diseases [RCV002415605]\|Intellectual Disability, Recessive [RCV000262428]\|TRAPPC9-related disorder [RCV003935127]\|not provided [RCV000118661]	Chr8:140291038 [GRCh38] Chr8:141301137 [GRCh37] Chr8:8q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.2540A>C (p.Asp847Ala)	single nucleotide variant	not provided [RCV000118662]	Chr8:140221475 [GRCh38] Chr8:141231574 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3390A>C (p.Pro1130=)	single nucleotide variant	Inborn genetic diseases [RCV002453435]\|not provided [RCV000896017]\|not specified [RCV000118664]	Chr8:139731118 [GRCh38] Chr8:140743361 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.980A>G (p.Tyr327Cys)	single nucleotide variant	not provided [RCV000118665]	Chr8:140405605 [GRCh38] Chr8:141415704 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1194C>T (p.Ile398=)	single nucleotide variant	TRAPPC9-related disorder [RCV003975054]\|not provided [RCV000118666]	Chr8:140371121 [GRCh38] Chr8:141381220 [GRCh37] Chr8:8q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.1768+7C>T	single nucleotide variant	not provided [RCV000118669]	Chr8:140300462 [GRCh38] Chr8:141310561 [GRCh37] Chr8:8q24.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)	single nucleotide variant	Inborn genetic diseases [RCV002312525]\|Intellectual Disability, Recessive [RCV000384914]\|Intellectual disability, autosomal recessive 13 [RCV001838550]\|not provided [RCV001511979]\|not specified [RCV000118681]	Chr8:140451086 [GRCh38] Chr8:141461185 [GRCh37] Chr8:8q24.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter)	single nucleotide variant	Inborn genetic diseases [RCV002515802]\|Intellectual disability, autosomal recessive 13 [RCV000118683]\|not provided [RCV000419270]	Chr8:140451007 [GRCh38] Chr8:141461106 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_031466.8(TRAPPC9):c.-135A>G	single nucleotide variant	Inborn genetic diseases [RCV002316324]\|Intellectual Disability, Recessive [RCV000278340]\|not provided [RCV000960904]\|not specified [RCV000118659]	Chr8:140458405 [GRCh38] Chr8:141468504 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile)	single nucleotide variant	Inborn genetic diseases [RCV002313928]\|Intellectual Disability, Recessive [RCV000311757]\|Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome [RCV001252380]\|not provided [RCV000947138]\|not specified [RCV000118663]	Chr8:139732095 [GRCh38] Chr8:140744338 [GRCh37] Chr8:8q24.3	likely pathogenic\|benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)	single nucleotide variant	Inborn genetic diseases [RCV002313929]\|Intellectual Disability, Recessive [RCV000261001]\|not provided [RCV000956678]\|not specified [RCV000118667]	Chr8:140360087 [GRCh38] Chr8:141370186 [GRCh37] Chr8:8q24.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=)	single nucleotide variant	Inborn genetic diseases [RCV002312517]\|Intellectual Disability, Recessive [RCV000319877]\|Intellectual disability, autosomal recessive 13 [RCV001838548]\|not provided [RCV001520472]\|not specified [RCV000118668]	Chr8:140300545 [GRCh38] Chr8:141310644 [GRCh37] Chr8:8q24.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=)	single nucleotide variant	Inborn genetic diseases [RCV002312518]\|Intellectual Disability, Recessive [RCV000359487]\|TRAPPC9-related disorder [RCV003975055]\|not provided [RCV000969954]\|not specified [RCV000118670]	Chr8:140287720 [GRCh38] Chr8:141297819 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=)	single nucleotide variant	Inborn genetic diseases [RCV002312519]\|Intellectual Disability, Recessive [RCV000347198]\|not provided [RCV001510553]\|not specified [RCV000118671]	Chr8:140252916 [GRCh38] Chr8:141263015 [GRCh37] Chr8:8q24.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.2431+7G>A	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV000289866]\|not provided [RCV001510552]\|not specified [RCV000118672]	Chr8:140252770 [GRCh38] Chr8:141262869 [GRCh37] Chr8:8q24.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.2473C>T (p.Arg825Trp)	single nucleotide variant	not provided [RCV000118673]	Chr8:140221542 [GRCh38] Chr8:141231641 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-11+10G>A	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV000286995]\|not provided [RCV000964420]\|not specified [RCV000118674]	Chr8:140458271 [GRCh38] Chr8:141468370 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser)	single nucleotide variant	Inborn genetic diseases [RCV002312520]\|Intellectual Disability, Recessive [RCV000376511]\|not provided [RCV000224718]\|not specified [RCV000118675]	Chr8:139988739 [GRCh38] Chr8:140998947 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=)	single nucleotide variant	Inborn genetic diseases [RCV002312521]\|Intellectual Disability, Recessive [RCV000323246]\|not provided [RCV001510551]\|not specified [RCV000118676]	Chr8:139988737 [GRCh38] Chr8:140998945 [GRCh37] Chr8:8q24.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.3225C>T (p.Tyr1075=)	single nucleotide variant	Inborn genetic diseases [RCV002316325]\|Intellectual Disability, Recessive [RCV000351447]\|not provided [RCV000975192]\|not specified [RCV000118677]	Chr8:139732033 [GRCh38] Chr8:140744276 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=)	single nucleotide variant	Inborn genetic diseases [RCV002312522]\|Intellectual Disability, Recessive [RCV000298928]\|TRAPPC9-related disorder [RCV003975056]\|not provided [RCV001310642]\|not specified [RCV000118678]	Chr8:139732009 [GRCh38] Chr8:140744252 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.3279+4C>T	single nucleotide variant	Inborn genetic diseases [RCV002312523]\|Intellectual disability, autosomal recessive 13 [RCV000400581]\|not provided [RCV001640101]\|not specified [RCV000118679]	Chr8:139731975 [GRCh38] Chr8:140744218 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)	single nucleotide variant	Inborn genetic diseases [RCV002312524]\|Intellectual Disability, Recessive [RCV000322051]\|Intellectual disability, autosomal recessive 13 [RCV001838549]\|not provided [RCV001511980]\|not specified [RCV000118680]	Chr8:140451167 [GRCh38] Chr8:141461266 [GRCh37] Chr8:8q24.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=)	single nucleotide variant	Inborn genetic diseases [RCV002312526]\|Intellectual Disability, Recessive [RCV000325741]\|not provided [RCV001515965]\|not specified [RCV000118682]	Chr8:140451017 [GRCh38] Chr8:141461116 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=)	single nucleotide variant	Inborn genetic diseases [RCV002312527]\|Intellectual Disability, Recessive [RCV000369913]\|not provided [RCV001515964]\|not specified [RCV000118684]	Chr8:140450975 [GRCh38] Chr8:141461074 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=)	single nucleotide variant	Inborn genetic diseases [RCV002312528]\|Intellectual Disability, Recessive [RCV000334004]\|Intellectual disability, autosomal recessive 13 [RCV001838551]\|not provided [RCV001511978]\|not specified [RCV000118685]	Chr8:140450963 [GRCh38] Chr8:141461062 [GRCh37] Chr8:8q24.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.414C>T (p.Tyr138=)	single nucleotide variant	Inborn genetic diseases [RCV002313930]\|Intellectual Disability, Recessive [RCV000274208]\|not provided [RCV000974241]\|not specified [RCV000118686]	Chr8:140450960 [GRCh38] Chr8:141461059 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.456C>T (p.Ile152=)	single nucleotide variant	Inborn genetic diseases [RCV002312529]\|not provided [RCV001588930]\|not specified [RCV000118687]	Chr8:140450918 [GRCh38] Chr8:141461017 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=)	single nucleotide variant	Inborn genetic diseases [RCV002312530]\|Intellectual Disability, Recessive [RCV000300177]\|not provided [RCV001515963]\|not specified [RCV000118688]	Chr8:140450819 [GRCh38] Chr8:141460918 [GRCh37] Chr8:8q24.3	benign\|likely benign
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	copy number gain	See cases [RCV002292707]	Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2551del (p.His850_Val851insTer)	deletion	Mental retardation, autosomal recessive 13 [RCV001292687]	Chr8:140221464 [GRCh38] Chr8:141231563 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003984824]\|not provided [RCV000171421]	Chr8:139885900 [GRCh38] Chr8:140898144 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic\|no classifications from unflagged records
NM_031466.8(TRAPPC9):c.-249C>T	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001333296]	Chr8:140458519 [GRCh38] Chr8:141468618 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	copy number gain	See cases [RCV000133621]	Chr8:130115518..141228210 [GRCh38] Chr8:131127764..142238309 [GRCh37] Chr8:131196946..142307491 [NCBI36] Chr8:8q24.21-24.3	pathogenic
GRCh38/hg38 8q24.3(chr8:139864393-141031612)x3	copy number gain	See cases [RCV000134143]	Chr8:139864393..141031612 [GRCh38] Chr8:140876636..142041711 [GRCh37] Chr8:140945818..142110893 [NCBI36] Chr8:8q24.3	uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	copy number gain	See cases [RCV000134353]	Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV002503798]\|not specified [RCV000202690]	Chr8:139731144 [GRCh38] Chr8:140743387 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh38/hg38 8q24.3(chr8:139969846-140216465)x1	copy number loss	See cases [RCV000137103]	Chr8:139969846..140216465 [GRCh38] Chr8:140980052..141226564 [GRCh37] Chr8:141049234..141295746 [NCBI36] Chr8:8q24.3	uncertain significance
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	copy number gain	See cases [RCV000137644]	Chr8:130639182..145068712 [GRCh38] Chr8:131651428..146294098 [GRCh37] Chr8:131720610..146264902 [NCBI36] Chr8:8q24.22-24.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	copy number gain	See cases [RCV000137466]	Chr8:139236824..145068712 [GRCh38] Chr8:140249067..146294098 [GRCh37] Chr8:140318249..146264902 [NCBI36] Chr8:8q24.3	likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	copy number gain	See cases [RCV000137340]	Chr8:139004218..145049449 [GRCh38] Chr8:140016461..146274835 [GRCh37] Chr8:140085643..146245639 [NCBI36] Chr8:8q24.3	likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	copy number gain	See cases [RCV000137346]	Chr8:124498498..145068712 [GRCh38] Chr8:125510739..146294098 [GRCh37] Chr8:125579920..146264902 [NCBI36] Chr8:8q24.13-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	copy number gain	See cases [RCV000138551]	Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3	pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	copy number gain	See cases [RCV000139036]	Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	copy number gain	See cases [RCV000140447]	Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	copy number gain	See cases [RCV000141694]	Chr8:100867343..145070385 [GRCh38] Chr8:101879571..146295771 [GRCh37] Chr8:101948747..146266575 [NCBI36] Chr8:8q22.3-24.3	pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	copy number gain	See cases [RCV000142810]	Chr8:103306336..145068712 [GRCh38] Chr8:104318564..146294098 [GRCh37] Chr8:104387740..146264902 [NCBI36] Chr8:8q22.3-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	copy number gain	See cases [RCV000142597]	Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	copy number gain	See cases [RCV000143659]	Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3	pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	copy number gain	See cases [RCV000148117]	Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3	pathogenic
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)	single nucleotide variant	Inborn genetic diseases [RCV002317716]\|Intellectual Disability, Recessive [RCV000271592]\|Intellectual disability [RCV001252376]\|Intellectual disability, autosomal recessive 13 [RCV000677118]\|TRAPPC9-related disorder [RCV003967506]\|not provided [RCV000894194]\|not specified [RCV000192374]	Chr8:140451111 [GRCh38] Chr8:141461210 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.1326G>A (p.Ser442=)	single nucleotide variant	Inborn genetic diseases [RCV002390508]\|Intellectual Disability, Recessive [RCV000291897]\|not provided [RCV000905045]\|not specified [RCV000192518]	Chr8:140370989 [GRCh38] Chr8:141381088 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.3278C>T (p.Ala1093Val)	single nucleotide variant	Inborn genetic diseases [RCV004678639]\|not provided [RCV002517146]\|not specified [RCV000192629]	Chr8:139731980 [GRCh38] Chr8:140744223 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2597C>T (p.Pro866Leu)	single nucleotide variant	Inborn genetic diseases [RCV004020347]\|Intellectual disability, autosomal recessive 13 [RCV003137774]\|not provided [RCV002517145]\|not specified [RCV000192680]	Chr8:140024039 [GRCh38] Chr8:141034136 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1693G>A (p.Val565Met)	single nucleotide variant	Inborn genetic diseases [RCV004020346]\|TRAPPC9-related disorder [RCV003955174]\|not provided [RCV003727631]\|not specified [RCV000192934]	Chr8:140300544 [GRCh38] Chr8:141310643 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.3012C>T (p.Asn1004=)	single nucleotide variant	Inborn genetic diseases [RCV002315513]\|TRAPPC9-related disorder [RCV003937718]\|not provided [RCV000879298]\|not specified [RCV000193157]	Chr8:139885922 [GRCh38] Chr8:140898166 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.3148C>T (p.Arg1050Trp)	single nucleotide variant	not provided [RCV001572808]\|not specified [RCV000193279]	Chr8:139732110 [GRCh38] Chr8:140744353 [GRCh37] Chr8:8q24.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=)	single nucleotide variant	Inborn genetic diseases [RCV002315511]\|Intellectual Disability, Recessive [RCV000397285]\|not provided [RCV000913602]\|not specified [RCV000193435]	Chr8:140371151 [GRCh38] Chr8:141381250 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr)	single nucleotide variant	Inborn genetic diseases [RCV002408860]\|Intellectual disability [RCV001252371]\|Intellectual disability, autosomal recessive 13 [RCV001336727]\|not provided [RCV001651062]\|not specified [RCV000193466]	Chr8:140311306 [GRCh38] Chr8:141321405 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.3292G>C (p.Gly1098Arg)	single nucleotide variant	Inborn genetic diseases [RCV004020348]\|Intellectual disability, autosomal recessive 13 [RCV004576929]\|not specified [RCV000193670]	Chr8:139731216 [GRCh38] Chr8:140743459 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003137775]\|not provided [RCV003105823]\|not specified [RCV000193776]	Chr8:140451105 [GRCh38] Chr8:141461204 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2037G>A (p.Pro679=)	single nucleotide variant	Inborn genetic diseases [RCV002444785]\|not provided [RCV000933957]\|not specified [RCV000194078]	Chr8:140283966 [GRCh38] Chr8:141294065 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val)	single nucleotide variant	Inborn genetic diseases [RCV002311306]\|Intellectual disability, autosomal recessive 13 [RCV000764742]\|TRAPPC9-related disorder [RCV004745262]\|not provided [RCV000766964]\|not specified [RCV000194083]	Chr8:139910229 [GRCh38] Chr8:140922473 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3069C>T (p.Asp1023=)	single nucleotide variant	Inborn genetic diseases [RCV002315514]\|not provided [RCV000893698]\|not specified [RCV000194212]	Chr8:139732189 [GRCh38] Chr8:140744432 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr)	single nucleotide variant	Inborn genetic diseases [RCV002311307]\|Intellectual Disability, Recessive [RCV000390442]\|Intellectual disability, autosomal recessive 13 [RCV000764741]\|TRAPPC9-related disorder [RCV004745263]\|not provided [RCV000766965]\|not specified [RCV000194313]	Chr8:139732083 [GRCh38] Chr8:140744326 [GRCh37] Chr8:8q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.159C>T (p.Leu53=)	single nucleotide variant	Inborn genetic diseases [RCV002315515]\|not provided [RCV000881432]\|not specified [RCV000194342]	Chr8:140451215 [GRCh38] Chr8:141461314 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.1177G>A (p.Glu393Lys)	single nucleotide variant	Intellectual Disability, Recessive [RCV000344704]\|not provided [RCV001857705]\|not specified [RCV000194495]	Chr8:140371138 [GRCh38] Chr8:141381237 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001328634]\|not provided [RCV000766963]\|not specified [RCV000194634]	Chr8:140287691 [GRCh38] Chr8:141297790 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=)	single nucleotide variant	Inborn genetic diseases [RCV002315516]\|Intellectual Disability, Recessive [RCV000356435]\|not provided [RCV000899688]\|not specified [RCV000194824]	Chr8:140439194 [GRCh38] Chr8:141449293 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.1603A>T (p.Thr535Ser)	single nucleotide variant	not provided [RCV000656320]\|not specified [RCV000194883]	Chr8:140311267 [GRCh38] Chr8:141321366 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2921G>A (p.Arg974Gln)	single nucleotide variant	not provided [RCV001853115]\|not specified [RCV000195122]	Chr8:139910190 [GRCh38] Chr8:140922434 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.44C>T (p.Thr15Met)	single nucleotide variant	Inborn genetic diseases [RCV002453711]\|not provided [RCV001857707]\|not specified [RCV000195216]	Chr8:140451330 [GRCh38] Chr8:141461429 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-203G>C	single nucleotide variant	not specified [RCV000192857]	Chr8:140458473 [GRCh38] Chr8:141468572 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-73G>C	single nucleotide variant	Inborn genetic diseases [RCV002315512]\|Intellectual disability, autosomal recessive 13 [RCV002500597]\|not provided [RCV000906910]\|not specified [RCV000193018]	Chr8:140458343 [GRCh38] Chr8:141468442 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_031466.8(TRAPPC9):c.-11+6C>T	single nucleotide variant	not provided [RCV001857706]\|not specified [RCV000195095]	Chr8:140458275 [GRCh38] Chr8:141468374 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.653T>A (p.Met218Lys)	single nucleotide variant	not specified [RCV000193415]	Chr8:140439129 [GRCh38] Chr8:141449228 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1745G>C (p.Gly582Ala)	single nucleotide variant	not specified [RCV000193573]	Chr8:140300492 [GRCh38] Chr8:141310591 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001336731]\|not provided [RCV000513800]	Chr8:139910257 [GRCh38] Chr8:140922501 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_001160372.4(TRAPPC9):c.71G>A (p.Gly24Asp)	single nucleotide variant	not provided [RCV000224589]	Chr8:140451303 [GRCh38] Chr8:141461402 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)	single nucleotide variant	Inborn genetic diseases [RCV002460061]\|Intellectual disability [RCV001252375]\|Intellectual disability, autosomal recessive 13 [RCV000764744]\|not provided [RCV000224748]\|not specified [RCV000503217]	Chr8:140435118 [GRCh38] Chr8:141445217 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.-6T>C	single nucleotide variant	not provided [RCV000224872]	Chr8:140451379 [GRCh38] Chr8:141461478 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2794G>A (p.Ala932Thr)	single nucleotide variant	Inborn genetic diseases [RCV002321919]\|not provided [RCV002518528]\|not specified [RCV000238778]	Chr8:139988742 [GRCh38] Chr8:140998950 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2036C>T (p.Pro679Leu)	single nucleotide variant	Inborn genetic diseases [RCV004023609]\|not provided [RCV000520152]	Chr8:140283967 [GRCh38] Chr8:141294066 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2458_2459del (p.Leu820fs)	deletion	Intellectual disability, autosomal recessive 13 [RCV001374749]	Chr8:140221556..140221557 [GRCh38] Chr8:141231655..141231656 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)	single nucleotide variant	Inborn genetic diseases [RCV002450933]\|Intellectual Disability, Recessive [RCV000368670]\|Intellectual disability [RCV001252377]\|Intellectual disability, autosomal recessive 13 [RCV000709937]\|not provided [RCV001815322]\|not specified [RCV000501719]	Chr8:139732109 [GRCh38] Chr8:140744352 [GRCh37] Chr8:8q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_001160372.4(TRAPPC9):c.1938G>A (p.Thr646=)	single nucleotide variant	Intellectual Disability, Recessive [RCV000302369]	Chr8:140287651 [GRCh38] Chr8:141297750 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.*181G>A	single nucleotide variant	Intellectual Disability, Recessive [RCV000269789]	Chr8:139730880 [GRCh38] Chr8:140743123 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.*65C>G	single nucleotide variant	Intellectual Disability, Recessive [RCV000286322]	Chr8:139730996 [GRCh38] Chr8:140743239 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2279-11del	deletion	Intellectual Disability, Recessive [RCV000398698]\|not provided [RCV002524550]	Chr8:140252940 [GRCh38] Chr8:141263039 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2811-4G>A	single nucleotide variant	Inborn genetic diseases [RCV002317858]\|Intellectual disability, autosomal recessive 13 [RCV000270490]\|TRAPPC9-related disorder [RCV003912551]\|not provided [RCV001311334]	Chr8:139910304 [GRCh38] Chr8:140922548 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.370A>G (p.Ile124Val)	single nucleotide variant	Inborn genetic diseases [RCV002365428]\|Intellectual Disability, Recessive [RCV000270574]\|not provided [RCV000898470]	Chr8:140451004 [GRCh38] Chr8:141461103 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2556+11A>G	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV000348295]\|not provided [RCV002523640]	Chr8:140221448 [GRCh38] Chr8:141231547 [GRCh37] Chr8:8q24.3	benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)	single nucleotide variant	Inborn genetic diseases [RCV002523637]\|Intellectual Disability, Recessive [RCV000271805]\|Intellectual disability, autosomal recessive 13 [RCV001336733]\|not provided [RCV000914028]\|not specified [RCV000500118]	Chr8:139732122 [GRCh38] Chr8:140744365 [GRCh37] Chr8:8q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.*104C>T	single nucleotide variant	Intellectual Disability, Recessive [RCV000327095]\|not provided [RCV001712550]	Chr8:139730957 [GRCh38] Chr8:140743200 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2742C>T (p.Thr914=)	single nucleotide variant	Inborn genetic diseases [RCV002311433]\|Intellectual Disability, Recessive [RCV000375192]\|TRAPPC9-related disorder [RCV003972526]\|not provided [RCV000968134]	Chr8:139988794 [GRCh38] Chr8:140999002 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.*331C>T	single nucleotide variant	Intellectual Disability, Recessive [RCV000328134]	Chr8:139730730 [GRCh38] Chr8:140742973 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln)	single nucleotide variant	Inborn genetic diseases [RCV002311434]\|Intellectual Disability, Recessive [RCV000376722]\|Intellectual disability, autosomal recessive 13 [RCV000764745]\|not provided [RCV001861318]\|not specified [RCV000503914]	Chr8:140451234 [GRCh38] Chr8:141461333 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=)	single nucleotide variant	Inborn genetic diseases [RCV002314083]\|Intellectual Disability, Recessive [RCV000377332]\|TRAPPC9-related disorder [RCV003922622]\|not provided [RCV002058704]\|not specified [RCV000504491]	Chr8:139731097 [GRCh38] Chr8:140743340 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2245C>T (p.Leu749=)	single nucleotide variant	Intellectual Disability, Recessive [RCV000307775]\|not provided [RCV002524551]	Chr8:140275691 [GRCh38] Chr8:141285790 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.805C>T (p.Arg269Trp)	single nucleotide variant	Inborn genetic diseases [RCV002523643]\|Intellectual Disability, Recessive [RCV000402129]\|not provided [RCV000656319]\|not specified [RCV001174659]	Chr8:140435166 [GRCh38] Chr8:141445265 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.*375C>T	single nucleotide variant	Intellectual Disability, Recessive [RCV000275408]	Chr8:139730686 [GRCh38] Chr8:140742929 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2988G>A (p.Glu996=)	single nucleotide variant	Inborn genetic diseases [RCV002317857]\|Intellectual Disability, Recessive [RCV000310370]\|not provided [RCV002523638]	Chr8:139885946 [GRCh38] Chr8:140898190 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.*677T>C	single nucleotide variant	Intellectual Disability, Recessive [RCV000276379]	Chr8:139730384 [GRCh38] Chr8:140742627 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1420A>G (p.Met474Val)	single nucleotide variant	Intellectual Disability, Recessive [RCV000293136]\|not provided [RCV002524552]\|not specified [RCV000500872]	Chr8:140360125 [GRCh38] Chr8:141370224 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.*285A>C	single nucleotide variant	Intellectual Disability, Recessive [RCV000385240]	Chr8:139730776 [GRCh38] Chr8:140743019 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys)	single nucleotide variant	Intellectual Disability, Recessive [RCV000278570]\|Intellectual disability, autosomal recessive 13 [RCV001336730]\|not provided [RCV002523639]	Chr8:140023983 [GRCh38] Chr8:141034080 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2557-14T>A	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV000296151]\|not provided [RCV003766085]	Chr8:140024093 [GRCh38] Chr8:141034190 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.3288G>A (p.Pro1096=)	single nucleotide variant	Inborn genetic diseases [RCV002338952]\|Intellectual Disability, Recessive [RCV000337927]\|not provided [RCV002524547]	Chr8:139731220 [GRCh38] Chr8:140743463 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=)	single nucleotide variant	Inborn genetic diseases [RCV002314084]\|Intellectual Disability, Recessive [RCV000280516]\|TRAPPC9-related disorder [RCV003972525]\|not provided [RCV000965088]	Chr8:139731217 [GRCh38] Chr8:140743460 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.*576G>A	single nucleotide variant	Intellectual Disability, Recessive [RCV000315440]	Chr8:139730485 [GRCh38] Chr8:140742728 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg)	single nucleotide variant	Inborn genetic diseases [RCV002317856]\|Intellectual Disability, Recessive [RCV000338962]\|Intellectual disability [RCV001252372]\|not provided [RCV000913653]\|not specified [RCV000503076]	Chr8:139731094 [GRCh38] Chr8:140743337 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2827G>C (p.Asp943His)	single nucleotide variant	Inborn genetic diseases [RCV002524549]\|Intellectual Disability, Recessive [RCV000362706]\|not provided [RCV002524548]	Chr8:139910284 [GRCh38] Chr8:140922528 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2557-13T>A	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV000388069]\|not provided [RCV001518460]\|not specified [RCV001529189]	Chr8:140024092 [GRCh38] Chr8:141034189 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1421T>G (p.Met474Arg)	single nucleotide variant	Intellectual Disability, Recessive [RCV000389509]	Chr8:140360124 [GRCh38] Chr8:141370223 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2475G>A (p.Arg825=)	single nucleotide variant	Intellectual Disability, Recessive [RCV000390346]\|not provided [RCV000929098]	Chr8:140221540 [GRCh38] Chr8:141231639 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=)	single nucleotide variant	Inborn genetic diseases [RCV002323562]\|Intellectual Disability, Recessive [RCV000265509]\|TRAPPC9-related disorder [RCV003922623]\|not provided [RCV000917666]\|not specified [RCV000502241]	Chr8:139988740 [GRCh38] Chr8:140998948 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2652C>T (p.Val884=)	single nucleotide variant	Intellectual Disability, Recessive [RCV000317335]	Chr8:140023984 [GRCh38] Chr8:141034081 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-24G>A	single nucleotide variant	Inborn genetic diseases [RCV002523644]\|Intellectual Disability, Recessive [RCV000341679]\|not provided [RCV001850919]	Chr8:140458294 [GRCh38] Chr8:141468393 [GRCh37] Chr8:8q24.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr)	single nucleotide variant	Inborn genetic diseases [RCV002523642]\|Intellectual Disability, Recessive [RCV000343506]\|Intellectual disability [RCV001252373]\|Intellectual disability, autosomal recessive 13 [RCV002294322]\|not provided [RCV001861317]	Chr8:140405645 [GRCh38] Chr8:141415744 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.*532G>A	single nucleotide variant	Intellectual Disability, Recessive [RCV000367806]\|not provided [RCV002512095]	Chr8:139730529 [GRCh38] Chr8:140742772 [GRCh37] Chr8:8q24.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.2077G>A (p.Ala693Thr)	single nucleotide variant	Inborn genetic diseases [RCV002523641]\|Intellectual Disability, Recessive [RCV000393647]\|Intellectual disability [RCV001252378]\|not provided [RCV001591032]	Chr8:140283926 [GRCh38] Chr8:141294025 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2622G>T (p.Arg874Ser)	single nucleotide variant	Inborn genetic diseases [RCV002518023]\|not provided [RCV000309073]	Chr8:140024014 [GRCh38] Chr8:141034111 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala)	single nucleotide variant	Inborn genetic diseases [RCV003168999]\|Intellectual disability, autosomal recessive 13 [RCV002470880]\|not provided [RCV000489753]\|not specified [RCV001169860]	Chr8:139732202 [GRCh38] Chr8:140744445 [GRCh37] Chr8:8q24.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.1435C>T (p.Leu479Phe)	single nucleotide variant	Intellectual Disability, Recessive [RCV000332605]	Chr8:140360110 [GRCh38] Chr8:141370209 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1370C>A (p.Ala457Asp)	single nucleotide variant	Intellectual Disability, Recessive [RCV000383902]	Chr8:140360175 [GRCh38] Chr8:141370274 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2793C>T (p.His931=)	single nucleotide variant	Intellectual Disability, Recessive [RCV000318247]\|not provided [RCV003766084]	Chr8:139988743 [GRCh38] Chr8:140998951 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.495C>G (p.Asp165Glu)	single nucleotide variant	Intellectual Disability, Recessive [RCV000368886]	Chr8:140450879 [GRCh38] Chr8:141460978 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-304C>G	single nucleotide variant	Intellectual Disability, Recessive [RCV000338119]	Chr8:140458574 [GRCh38] Chr8:141468673 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1560C>T (p.Pro520=)	single nucleotide variant	Intellectual Disability, Recessive [RCV000353516]\|not provided [RCV003766086]	Chr8:140311310 [GRCh38] Chr8:141321409 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.580A>C (p.Ser194Arg)	single nucleotide variant	Intellectual Disability, Recessive [RCV000390307]	Chr8:140450794 [GRCh38] Chr8:141460893 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-58G>A	single nucleotide variant	Intellectual Disability, Recessive [RCV000372954]\|not specified [RCV001821101]	Chr8:140458328 [GRCh38] Chr8:141468427 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.677_683dup (p.Met228fs)	duplication	Intellectual disability, autosomal recessive 13 [RCV000299257]	Chr8:140439098..140439099 [GRCh38] Chr8:141449197..141449198 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2237T>C (p.Leu746Ser)	single nucleotide variant	Intellectual Disability, Recessive [RCV000360152]	Chr8:140275699 [GRCh38] Chr8:141285798 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.*80G>C	single nucleotide variant	Intellectual Disability, Recessive [RCV000379425]	Chr8:139730981 [GRCh38] Chr8:140743224 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3220_3225delinsGACTAA (p.Asn1074_Tyr1075delinsAspTer)	indel	not provided [RCV000598810]	Chr8:139732033..139732038 [GRCh38] Chr8:140744276..140744281 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_001160372.4(TRAPPC9):c.1751A>G (p.Glu584Gly)	single nucleotide variant	not provided [RCV001092151]	Chr8:140300486 [GRCh38] Chr8:141310585 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	copy number gain	not provided [RCV000848192]	Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:141447774-141542712)x3	copy number gain	See cases [RCV000447662]	Chr8:141447774..141542712 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:141016802-141086121)x1	copy number loss	See cases [RCV000447499]	Chr8:141016802..141086121 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:141286569-141519946)x3	copy number gain	See cases [RCV000446654]	Chr8:141286569..141519946 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:140893641-140970359)x1	copy number loss	See cases [RCV000448120]	Chr8:140893641..140970359 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	copy number gain	See cases [RCV000448954]	Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3	pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	copy number gain	See cases [RCV000448348]	Chr8:134825277..146280828 [GRCh37] Chr8:8q24.22-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:141446055-141538656)x3	copy number gain	See cases [RCV000448357]	Chr8:141446055..141538656 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3158G>A (p.Arg1053His)	single nucleotide variant	Inborn genetic diseases [RCV003168983]\|not provided [RCV000479875]	Chr8:139732100 [GRCh38] Chr8:140744343 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2811-1G>A	single nucleotide variant	not provided [RCV000484476]	Chr8:139910301 [GRCh38] Chr8:140922545 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.2486G>A (p.Arg829Gln)	single nucleotide variant	not provided [RCV000485603]	Chr8:140221529 [GRCh38] Chr8:141231628 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1294C>A (p.Leu432Ile)	single nucleotide variant	not specified [RCV000501060]	Chr8:140371021 [GRCh38] Chr8:141381120 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.274_280del (p.Trp92fs)	deletion	TRAPPC9-related disorder [RCV003419847]\|not provided [RCV000498907]	Chr8:140451094..140451100 [GRCh38] Chr8:141461193..141461199 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_001160372.4(TRAPPC9):c.1357C>T (p.His453Tyr)	single nucleotide variant	not specified [RCV000501117]	Chr8:140360188 [GRCh38] Chr8:141370287 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1980C>T (p.Asn660=)	single nucleotide variant	Inborn genetic diseases [RCV002446982]\|not provided [RCV000882196]\|not specified [RCV000501145]	Chr8:140287609 [GRCh38] Chr8:141297708 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn)	single nucleotide variant	Inborn genetic diseases [RCV002316449]\|Intellectual disability, autosomal recessive 13 [RCV002272267]\|not provided [RCV002524317]\|not specified [RCV000501215]	Chr8:140023955 [GRCh38] Chr8:141034052 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.543G>A (p.Pro181=)	single nucleotide variant	Inborn genetic diseases [RCV002438227]\|TRAPPC9-related disorder [RCV003935315]\|not provided [RCV002060151]\|not specified [RCV000503384]	Chr8:140450831 [GRCh38] Chr8:141460930 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.687G>A (p.Ser229=)	single nucleotide variant	TRAPPC9-related disorder [RCV003942654]\|not provided [RCV003565430]\|not specified [RCV000503544]	Chr8:140439095 [GRCh38] Chr8:141449194 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2662G>A (p.Val888Ile)	single nucleotide variant	not specified [RCV000503691]	Chr8:140023974 [GRCh38] Chr8:141034071 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2981G>C (p.Ser994Thr)	single nucleotide variant	Inborn genetic diseases [RCV002314880]\|not provided [RCV002524315]\|not specified [RCV000501564]	Chr8:139885953 [GRCh38] Chr8:140898197 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.370_373dup (p.Val125fs)	duplication	Intellectual disability, autosomal recessive 13 [RCV000501638]	Chr8:140451000..140451001 [GRCh38] Chr8:141461099..141461100 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys)	single nucleotide variant	Inborn genetic diseases [RCV002316450]\|Intellectual disability, autosomal recessive 13 [RCV000677117]\|TRAPPC9-related disorder [RCV003915395]\|not provided [RCV000963458]\|not specified [RCV000499445]	Chr8:139732101 [GRCh38] Chr8:140744344 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.531dup (p.Leu178fs)	duplication	Intellectual disability, autosomal recessive 13 [RCV000499511]	Chr8:140450842..140450843 [GRCh38] Chr8:141460941..141460942 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser)	single nucleotide variant	Inborn genetic diseases [RCV002314879]\|Intellectual disability, autosomal recessive 13 [RCV000660589]\|not provided [RCV001857178]\|not specified [RCV000501982]	Chr8:139732047 [GRCh38] Chr8:140744290 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1678T>C (p.Leu560=)	single nucleotide variant	TRAPPC9-related disorder [RCV003962401]\|not provided [RCV002527302]\|not specified [RCV000504066]	Chr8:140300559 [GRCh38] Chr8:141310658 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2258C>T (p.Ser753Leu)	single nucleotide variant	not specified [RCV000504215]	Chr8:140275678 [GRCh38] Chr8:141285777 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1385G>A (p.Arg462His)	single nucleotide variant	not provided [RCV002524316]\|not specified [RCV000504234]	Chr8:140360160 [GRCh38] Chr8:141370259 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.291G>C (p.Glu97Asp)	single nucleotide variant	not specified [RCV000504135]	Chr8:140451083 [GRCh38] Chr8:141461182 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3168G>A (p.Gly1056=)	single nucleotide variant	Inborn genetic diseases [RCV002455973]\|not provided [RCV000898375]\|not specified [RCV000499570]	Chr8:139732090 [GRCh38] Chr8:140744333 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1078C>T (p.Arg360Trp)	single nucleotide variant	not specified [RCV000499773]	Chr8:140397676 [GRCh38] Chr8:141407775 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-244C>T	single nucleotide variant	not specified [RCV000502019]	Chr8:140458514 [GRCh38] Chr8:141468613 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.584G>C (p.Arg195Thr)	single nucleotide variant	not specified [RCV000501958]	Chr8:140450790 [GRCh38] Chr8:141460889 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2341C>A (p.Gln781Lys)	single nucleotide variant	not specified [RCV000502100]	Chr8:140252867 [GRCh38] Chr8:141262966 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3237C>T (p.Asp1079=)	single nucleotide variant	not provided [RCV000906002]\|not specified [RCV000499877]	Chr8:139732021 [GRCh38] Chr8:140744264 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1263G>A (p.Ala421=)	single nucleotide variant	Inborn genetic diseases [RCV002404315]\|not provided [RCV000948808]\|not specified [RCV000499912]	Chr8:140371052 [GRCh38] Chr8:141381151 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.26G>A (p.Cys9Tyr)	single nucleotide variant	not specified [RCV000502159]	Chr8:140451348 [GRCh38] Chr8:141461447 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.82G>A (p.Glu28Lys)	single nucleotide variant	not provided [RCV001865626]\|not specified [RCV000500208]	Chr8:140451292 [GRCh38] Chr8:141461391 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV000625882]\|not provided [RCV004691815]\|not specified [RCV000502630]	Chr8:140287641 [GRCh38] Chr8:141297740 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.384G>A (p.Pro128=)	single nucleotide variant	not provided [RCV002060152]\|not specified [RCV000500364]	Chr8:140450990 [GRCh38] Chr8:141461089 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3325C>A (p.Leu1109Ile)	single nucleotide variant	not specified [RCV000502922]	Chr8:139731183 [GRCh38] Chr8:140743426 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.1245C>T (p.Cys415=)	single nucleotide variant	Inborn genetic diseases [RCV002404316]\|not provided [RCV000938916]\|not specified [RCV000500721]	Chr8:140371070 [GRCh38] Chr8:141381169 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2361G>A (p.Thr787=)	single nucleotide variant	not provided [RCV003565429]\|not specified [RCV000500659]	Chr8:140252847 [GRCh38] Chr8:141262946 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001333295]\|TRAPPC9-related disorder [RCV003902797]\|not provided [RCV000879231]\|not specified [RCV000500833]	Chr8:139731152 [GRCh38] Chr8:140743395 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.3241G>A (p.Val1081Ile)	single nucleotide variant	Inborn genetic diseases [RCV002455974]\|TRAPPC9-related disorder [RCV003925493]\|not provided [RCV000896018]\|not specified [RCV000503198]	Chr8:139732017 [GRCh38] Chr8:140744260 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	copy number gain	See cases [RCV000511761]	Chr8:93047482..141355635 [GRCh37] Chr8:8q21.3-24.3	pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	copy number gain	See cases [RCV000512003]	Chr8:136378789..146295771 [GRCh37] Chr8:8q24.22-24.3	likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	copy number gain	See cases [RCV000511002]	Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	copy number gain	See cases [RCV000510854]	Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2482G>A (p.Val828Ile)	single nucleotide variant	Inborn genetic diseases [RCV003302559]	Chr8:140221533 [GRCh38] Chr8:141231632 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1982-20A>C	single nucleotide variant	not provided [RCV000514086]	Chr8:140284041 [GRCh38] Chr8:141294140 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.3124C>T (p.Arg1042Cys)	single nucleotide variant	Inborn genetic diseases [RCV003259304]	Chr8:139732134 [GRCh38] Chr8:140744377 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2557-70923A>G	single nucleotide variant	not provided [RCV003312722]	Chr8:140095002 [GRCh38] Chr8:141105101 [GRCh37] Chr8:8q24.3	benign
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	copy number gain	See cases [RCV000512401]	Chr8:114853126..146295771 [GRCh37] Chr8:8q23.3-24.3	pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
NM_031466.8(TRAPPC9):c.-74C>A	single nucleotide variant	Inborn genetic diseases [RCV002424564]\|Intellectual disability, autosomal recessive 13 [RCV000660485]\|not provided [RCV001868179]	Chr8:140458344 [GRCh38] Chr8:141468443 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2032C>G (p.Leu678Val)	single nucleotide variant	Inborn genetic diseases [RCV002316107]	Chr8:140283971 [GRCh38] Chr8:141294070 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1296C>T (p.Leu432=)	single nucleotide variant	Inborn genetic diseases [RCV002316070]	Chr8:140371019 [GRCh38] Chr8:141381118 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met)	single nucleotide variant	Inborn genetic diseases [RCV002312419]\|TRAPPC9-related disorder [RCV003980334]\|not provided [RCV000897794]\|not specified [RCV001816749]	Chr8:139731087 [GRCh38] Chr8:140743330 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2811-5C>T	single nucleotide variant	Inborn genetic diseases [RCV002316896]\|not provided [RCV000912032]\|not specified [RCV001816786]	Chr8:139910305 [GRCh38] Chr8:140922549 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.192G>A (p.Glu64=)	single nucleotide variant	Inborn genetic diseases [RCV002316711]\|not provided [RCV002067053]	Chr8:140451182 [GRCh38] Chr8:141461281 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1233C>T (p.Ala411=)	single nucleotide variant	Inborn genetic diseases [RCV002316714]\|TRAPPC9-related disorder [RCV003983179]\|not provided [RCV000923599]	Chr8:140371082 [GRCh38] Chr8:141381181 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2809C>T (p.Arg937Ter)	single nucleotide variant	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome [RCV001252379]	Chr8:139988727 [GRCh38] Chr8:140998935 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	copy number gain	not provided [RCV000683044]	Chr8:121694649..146295771 [GRCh37] Chr8:8q24.12-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:141093504-141180233)x1	copy number loss	not provided [RCV000682921]	Chr8:141093504..141180233 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8q24.3(chr8:140942613-141160101)x1	copy number loss	not provided [RCV000682947]	Chr8:140942613..141160101 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.136G>A (p.Val46Met)	single nucleotide variant	Inborn genetic diseases [RCV002314466]\|Intellectual disability, autosomal recessive 13 [RCV002485805]\|not provided [RCV000731941]	Chr8:140451238 [GRCh38] Chr8:141461337 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1982-1G>A	single nucleotide variant	Inborn genetic diseases [RCV002314582]	Chr8:140284022 [GRCh38] Chr8:141294121 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys)	single nucleotide variant	Inborn genetic diseases [RCV002312366]\|Intellectual disability, autosomal recessive 13 [RCV002493271]\|not provided [RCV001862015]	Chr8:139885921 [GRCh38] Chr8:140898165 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-129_-109dup	duplication	History of neurodevelopmental disorder [RCV000716597]\|Intellectual disability, autosomal recessive 13 [RCV001264806]\|TRAPPC9-related disorder [RCV003980339]\|not provided [RCV000959043]	Chr8:140458378..140458379 [GRCh38] Chr8:141468477..141468478 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.1881C>T (p.Phe627=)	single nucleotide variant	Inborn genetic diseases [RCV002313520]\|not provided [RCV002067028]	Chr8:140287708 [GRCh38] Chr8:141297807 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-108A>G	single nucleotide variant	Inborn genetic diseases [RCV002312388]\|not provided [RCV000880267]	Chr8:140458378 [GRCh38] Chr8:141468477 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.2772C>T (p.Ser924=)	single nucleotide variant	Inborn genetic diseases [RCV002313501]\|not provided [RCV000904977]\|not specified [RCV001816763]	Chr8:139988764 [GRCh38] Chr8:140998972 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1870G>A (p.Gly624Arg)	single nucleotide variant	Inborn genetic diseases [RCV002315405]\|not provided [RCV002534571]	Chr8:140287719 [GRCh38] Chr8:141297818 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.6C>T (p.Ser2=)	single nucleotide variant	Inborn genetic diseases [RCV002318095]\|not provided [RCV000899863]	Chr8:140451368 [GRCh38] Chr8:141461467 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3220A>G (p.Asn1074Asp)	single nucleotide variant	Inborn genetic diseases [RCV002318767]\|not provided [RCV001862062]\|not specified [RCV001816783]	Chr8:139732038 [GRCh38] Chr8:140744281 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2871G>A (p.Lys957=)	single nucleotide variant	Inborn genetic diseases [RCV002318837]\|TRAPPC9-related disorder [RCV003945757]\|not provided [RCV000907351]	Chr8:139910240 [GRCh38] Chr8:140922484 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1184A>G (p.Tyr395Cys)	single nucleotide variant	Inborn genetic diseases [RCV002317973]	Chr8:140371131 [GRCh38] Chr8:141381230 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile)	single nucleotide variant	Inborn genetic diseases [RCV002312790]\|Intellectual disability, autosomal recessive 13 [RCV002499307]\|not provided [RCV000881433]	Chr8:140451367 [GRCh38] Chr8:141461466 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.3078A>G (p.Pro1026=)	single nucleotide variant	Inborn genetic diseases [RCV002318118]\|TRAPPC9-related disorder [RCV003980350]\|not provided [RCV000896019]	Chr8:139732180 [GRCh38] Chr8:140744423 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.198C>T (p.Asn66=)	single nucleotide variant	Inborn genetic diseases [RCV002318683]\|not provided [RCV000900305]	Chr8:140451176 [GRCh38] Chr8:141461275 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.3147C>T (p.Asn1049=)	single nucleotide variant	Inborn genetic diseases [RCV002318750]	Chr8:139732111 [GRCh38] Chr8:140744354 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-106G>A	single nucleotide variant	Inborn genetic diseases [RCV002316718]	Chr8:140458376 [GRCh38] Chr8:141468475 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.76G>A (p.Val26Ile)	single nucleotide variant	Inborn genetic diseases [RCV002313696]\|not provided [RCV001862044]	Chr8:140451298 [GRCh38] Chr8:141461397 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-134G>T	single nucleotide variant	Inborn genetic diseases [RCV002315327]	Chr8:140458404 [GRCh38] Chr8:141468503 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3225C>A (p.Tyr1075Ter)	single nucleotide variant	Inborn genetic diseases [RCV002318766]\|not provided [RCV001868359]\|not specified [RCV001816782]	Chr8:139732033 [GRCh38] Chr8:140744276 [GRCh37] Chr8:8q24.3	pathogenic\|uncertain significance
NM_001160372.4(TRAPPC9):c.1196G>A (p.Gly399Asp)	single nucleotide variant	Inborn genetic diseases [RCV002318746]\|not provided [RCV001324228]	Chr8:140371119 [GRCh38] Chr8:141381218 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3088G>A (p.Glu1030Lys)	single nucleotide variant	Inborn genetic diseases [RCV002318846]	Chr8:139732170 [GRCh38] Chr8:140744413 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-11+123_-11+132del	microsatellite	not provided [RCV001539459]	Chr8:140458149..140458158 [GRCh38] Chr8:141468248..141468257 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2279-301G>A	single nucleotide variant	not provided [RCV001530541]	Chr8:140253230 [GRCh38] Chr8:141263329 [GRCh37] Chr8:8q24.3	benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NC_000008.11:g.(?_140417391)_(140444832_?)del	deletion	Schizophrenia [RCV000754338]	Chr8:140417391..140444832 [GRCh38] Chr8:8q24.3	likely pathogenic
GRCh37/hg19 8q24.3(chr8:140893978-141050020)x3	copy number gain	not provided [RCV000754755]	Chr8:140893978..141050020 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.-10-26C>T	single nucleotide variant	not provided [RCV001608847]	Chr8:140451409 [GRCh38] Chr8:141461508 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1855-177A>G	single nucleotide variant	not provided [RCV001541487]	Chr8:140287911 [GRCh38] Chr8:141298010 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3279+341G>A	single nucleotide variant	not provided [RCV001583249]	Chr8:139731638 [GRCh38] Chr8:140743881 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2278+275C>T	single nucleotide variant	not provided [RCV001612305]	Chr8:140275383 [GRCh38] Chr8:141285482 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.3438G>A (p.Ala1146=)	single nucleotide variant	Inborn genetic diseases [RCV002354803]\|not provided [RCV000936151]	Chr8:139731070 [GRCh38] Chr8:140743313 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1009-90A>C	single nucleotide variant	not provided [RCV001564586]	Chr8:140397835 [GRCh38] Chr8:141407934 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2556+38T>C	single nucleotide variant	not provided [RCV001610137]	Chr8:140221421 [GRCh38] Chr8:141231520 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2432-1G>A	single nucleotide variant	not provided [RCV001543466]	Chr8:140221584 [GRCh38] Chr8:141231683 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.1769-122A>T	single nucleotide variant	not provided [RCV001648775]	Chr8:140291200 [GRCh38] Chr8:141301299 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2810+170G>A	single nucleotide variant	not provided [RCV001566076]	Chr8:139988556 [GRCh38] Chr8:140998764 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2557-180C>T	single nucleotide variant	not provided [RCV001535387]	Chr8:140024259 [GRCh38] Chr8:141034356 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2279-60G>T	single nucleotide variant	not provided [RCV001566844]	Chr8:140252989 [GRCh38] Chr8:141263088 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.859+142del	deletion	not provided [RCV001681874]	Chr8:140434970 [GRCh38] Chr8:141445069 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2965-33G>A	single nucleotide variant	not provided [RCV001571285]	Chr8:139886002 [GRCh38] Chr8:140898246 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1769-230G>A	single nucleotide variant	not provided [RCV001571875]	Chr8:140291308 [GRCh38] Chr8:141301407 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1352-327A>G	single nucleotide variant	not provided [RCV001550955]	Chr8:140360520 [GRCh38] Chr8:141370619 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2700-190C>T	single nucleotide variant	not provided [RCV001667288]	Chr8:139989026 [GRCh38] Chr8:140999234 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2279-310G>T	single nucleotide variant	not provided [RCV001667447]	Chr8:140253239 [GRCh38] Chr8:141263338 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.584+41A>G	single nucleotide variant	not provided [RCV001574140]	Chr8:140450749 [GRCh38] Chr8:141460848 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3280-134G>A	single nucleotide variant	not provided [RCV001574188]	Chr8:139731362 [GRCh38] Chr8:140743605 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1099T>G (p.Phe367Val)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003448828]	Chr8:140397655 [GRCh38] Chr8:141407754 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2278+95A>G	single nucleotide variant	not provided [RCV001575477]	Chr8:140275563 [GRCh38] Chr8:141285662 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2700-3C>T	single nucleotide variant	not provided [RCV001609849]	Chr8:139988839 [GRCh38] Chr8:140999047 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.3213C>T (p.Gly1071=)	single nucleotide variant	not provided [RCV000898496]	Chr8:139732045 [GRCh38] Chr8:140744288 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3125G>A (p.Arg1042His)	single nucleotide variant	not provided [RCV000900728]	Chr8:139732133 [GRCh38] Chr8:140744376 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.471C>T (p.Ile157=)	single nucleotide variant	not provided [RCV000900845]	Chr8:140450903 [GRCh38] Chr8:141461002 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1488G>T (p.Ser496=)	single nucleotide variant	not provided [RCV000905261]	Chr8:140360057 [GRCh38] Chr8:141370156 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1533G>C (p.Thr511=)	single nucleotide variant	not provided [RCV000983478]	Chr8:140311337 [GRCh38] Chr8:141321436 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.584+1G>A	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV000779552]	Chr8:140450789 [GRCh38] Chr8:141460888 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2491C>T (p.Arg831Ter)	single nucleotide variant	Abnormality of the nervous system [RCV001836911]\|Intellectual disability, autosomal recessive 13 [RCV004029278]\|not provided [RCV001823171]	Chr8:140221524 [GRCh38] Chr8:141231623 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2799T>C (p.Gly933=)	single nucleotide variant	not provided [RCV000948182]\|not specified [RCV002249583]	Chr8:139988737 [GRCh38] Chr8:140998945 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2991G>A (p.Ala997=)	single nucleotide variant	not provided [RCV000908625]	Chr8:139885943 [GRCh38] Chr8:140898187 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3300G>A (p.Ser1100=)	single nucleotide variant	not provided [RCV000908802]	Chr8:139731208 [GRCh38] Chr8:140743451 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-61C>T	single nucleotide variant	not provided [RCV000924821]	Chr8:140458331 [GRCh38] Chr8:141468430 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1830G>A (p.Pro610=)	single nucleotide variant	Inborn genetic diseases [RCV002416135]\|not provided [RCV000917339]	Chr8:140291017 [GRCh38] Chr8:141301116 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-223A>T	single nucleotide variant	not provided [RCV000977786]	Chr8:140458493 [GRCh38] Chr8:141468592 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2757C>T (p.Thr919=)	single nucleotide variant	not provided [RCV000895563]	Chr8:139988779 [GRCh38] Chr8:140998987 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3087C>T (p.Arg1029=)	single nucleotide variant	not provided [RCV000895011]	Chr8:139732171 [GRCh38] Chr8:140744414 [GRCh37] Chr8:8q24.3	benign\|likely benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1	copy number loss	not provided [RCV001006144]	Chr8:126892814..143750028 [GRCh37] Chr8:8q24.13-24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2557-74608G>A	single nucleotide variant	not provided [RCV003312723]	Chr8:140098687 [GRCh38] Chr8:141108786 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	copy number gain	not provided [RCV000849762]	Chr8:122193546..146295771 [GRCh37] Chr8:8q24.12-24.3	pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	copy number gain	not provided [RCV000847171]	Chr8:136059859..146295771 [GRCh37] Chr8:8q24.22-24.3	pathogenic
NM_001160372.4(TRAPPC9):c.1311C>T (p.Pro437=)	single nucleotide variant	Inborn genetic diseases [RCV002400120]\|not provided [RCV000962359]	Chr8:140371004 [GRCh38] Chr8:141381103 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.564A>G (p.Val188=)	single nucleotide variant	not provided [RCV000891880]\|not specified [RCV001818671]	Chr8:140450810 [GRCh38] Chr8:141460909 [GRCh37] Chr8:8q24.3	likely benign
Single allele	duplication	not provided [RCV000844900]	Chr8:141081122..141623752 [GRCh37] Chr8:8q24.3	not provided
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	copy number gain	not provided [RCV001006146]	Chr8:128877995..146295771 [GRCh37] Chr8:8q24.21-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:141431936-141542147)x3	copy number gain	not provided [RCV000846800]	Chr8:141431936..141542147 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:141270416-141289943)x1	copy number loss	not provided [RCV000849001]	Chr8:141270416..141289943 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.943_944del (p.Lys315fs)	deletion	not provided [RCV000999080]	Chr8:140405641..140405642 [GRCh38] Chr8:141415740..141415741 [GRCh37] Chr8:8q24.3	likely pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	copy number gain	not provided [RCV000845705]	Chr8:125496223..146295771 [GRCh37] Chr8:8q24.13-24.3	pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	copy number gain	not provided [RCV000846814]	Chr8:139188797..146295771 [GRCh37] Chr8:8q24.23-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:141081122-141623752)x3	copy number gain	not provided [RCV000846830]	Chr8:141081122..141623752 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3117C>A (p.Asp1039Glu)	single nucleotide variant	not provided [RCV003313706]	Chr8:139732141 [GRCh38] Chr8:140744384 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1496-3C>T	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001159506]	Chr8:140311377 [GRCh38] Chr8:141321476 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.318C>T (p.Tyr106=)	single nucleotide variant	not provided [RCV003104871]	Chr8:140451056 [GRCh38] Chr8:141461155 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-229C>T	single nucleotide variant	not provided [RCV003112499]	Chr8:140458499 [GRCh38] Chr8:141468598 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2700-8del	deletion	not provided [RCV003105196]	Chr8:139988844 [GRCh38] Chr8:140999052 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3055+203C>T	single nucleotide variant	not provided [RCV001571941]	Chr8:139885676 [GRCh38] Chr8:140897920 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.730+298C>T	single nucleotide variant	not provided [RCV001576716]	Chr8:140438754 [GRCh38] Chr8:141448853 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1855-78A>G	single nucleotide variant	not provided [RCV001576870]	Chr8:140287812 [GRCh38] Chr8:141297911 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-11+49G>A	single nucleotide variant	not provided [RCV001566829]	Chr8:140458232 [GRCh38] Chr8:141468331 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1496-42T>C	single nucleotide variant	not provided [RCV001567765]	Chr8:140311416 [GRCh38] Chr8:141321515 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3067G>T (p.Asp1023Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003273926]	Chr8:139732191 [GRCh38] Chr8:140744434 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1351+156C>T	single nucleotide variant	not provided [RCV001585472]	Chr8:140370808 [GRCh38] Chr8:141380907 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2557-146G>A	single nucleotide variant	not provided [RCV001637128]	Chr8:140024225 [GRCh38] Chr8:141034322 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro)	single nucleotide variant	Inborn genetic diseases [RCV002440793]\|Intellectual disability, autosomal recessive 13 [RCV002495886]\|TRAPPC9-related disorder [RCV003931183]\|not provided [RCV001555888]\|not specified [RCV001821882]	Chr8:140023965 [GRCh38] Chr8:141034062 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.*165G>C	single nucleotide variant	not provided [RCV001593724]	Chr8:139730896 [GRCh38] Chr8:140743139 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2965-207A>G	single nucleotide variant	not provided [RCV001556518]	Chr8:139886176 [GRCh38] Chr8:140898420 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1622+23G>A	single nucleotide variant	not provided [RCV001556941]	Chr8:140311225 [GRCh38] Chr8:141321324 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.860-150T>A	single nucleotide variant	not provided [RCV001556983]	Chr8:140426791 [GRCh38] Chr8:141436890 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1134+21A>G	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001838760]\|not provided [RCV001676317]	Chr8:140397599 [GRCh38] Chr8:141407698 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2557-173C>T	single nucleotide variant	not provided [RCV001594002]	Chr8:140024252 [GRCh38] Chr8:141034349 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2810+206C>T	single nucleotide variant	not provided [RCV001710008]	Chr8:139988520 [GRCh38] Chr8:140998728 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1134+226GTTT[3]	microsatellite	not provided [RCV001615996]	Chr8:140397386..140397387 [GRCh38] Chr8:141407485..141407486 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1134+233T>C	single nucleotide variant	not provided [RCV001581429]	Chr8:140397387 [GRCh38] Chr8:141407486 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1134+47C>T	single nucleotide variant	not provided [RCV001693275]	Chr8:140397573 [GRCh38] Chr8:141407672 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2432-89G>C	single nucleotide variant	not provided [RCV001546132]	Chr8:140221672 [GRCh38] Chr8:141231771 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2811-326C>T	single nucleotide variant	not provided [RCV001654789]	Chr8:139910626 [GRCh38] Chr8:140922870 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1351+107C>T	single nucleotide variant	not provided [RCV001588101]	Chr8:140370857 [GRCh38] Chr8:141380956 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2115-98T>C	single nucleotide variant	not provided [RCV001559459]	Chr8:140275919 [GRCh38] Chr8:141286018 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.730+125A>G	single nucleotide variant	not provided [RCV001559513]	Chr8:140438927 [GRCh38] Chr8:141449026 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2278+265C>T	single nucleotide variant	not provided [RCV001657083]	Chr8:140275393 [GRCh38] Chr8:141285492 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.-10-77C>T	single nucleotide variant	not provided [RCV001686667]	Chr8:140451460 [GRCh38] Chr8:141461559 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1098A>G (p.Glu366=)	single nucleotide variant	not provided [RCV000909029]	Chr8:140397656 [GRCh38] Chr8:141407755 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1317C>T (p.Tyr439=)	single nucleotide variant	not provided [RCV000909709]	Chr8:140370998 [GRCh38] Chr8:141381097 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3162C>T (p.Ser1054=)	single nucleotide variant	not provided [RCV000955190]	Chr8:139732096 [GRCh38] Chr8:140744339 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1768+10C>T	single nucleotide variant	not provided [RCV000901012]	Chr8:140300459 [GRCh38] Chr8:141310558 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-256G>A	single nucleotide variant	TRAPPC9-related disorder [RCV003913167]\|not provided [RCV000936951]\|not specified [RCV001818910]	Chr8:140458526 [GRCh38] Chr8:141468625 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.624C>T (p.His208=)	single nucleotide variant	not provided [RCV000919827]	Chr8:140439158 [GRCh38] Chr8:141449257 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.978G>A (p.Lys326=)	single nucleotide variant	not provided [RCV000976082]	Chr8:140405607 [GRCh38] Chr8:141415706 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2853G>A (p.Pro951=)	single nucleotide variant	not provided [RCV000907611]	Chr8:139910258 [GRCh38] Chr8:140922502 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3280-8C>G	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001159305]\|not provided [RCV003769765]	Chr8:139731236 [GRCh38] Chr8:140743479 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2556+7T>G	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001159400]\|not provided [RCV003727923]	Chr8:140221452 [GRCh38] Chr8:141231551 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2079G>A (p.Ala693=)	single nucleotide variant	not provided [RCV000912808]	Chr8:140283924 [GRCh38] Chr8:141294023 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.1215G>A (p.Ala405=)	single nucleotide variant	not provided [RCV000913566]	Chr8:140371100 [GRCh38] Chr8:141381199 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV000985089]	Chr8:139910221 [GRCh38] Chr8:140922465 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.2091G>A (p.Leu697=)	single nucleotide variant	not provided [RCV000934441]	Chr8:140283912 [GRCh38] Chr8:141294011 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-205G>T	single nucleotide variant	not provided [RCV000912460]	Chr8:140458475 [GRCh38] Chr8:141468574 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2278+247C>G	single nucleotide variant	not provided [RCV001540122]	Chr8:140275411 [GRCh38] Chr8:141285510 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1768+82T>C	single nucleotide variant	not provided [RCV001718449]	Chr8:140300387 [GRCh38] Chr8:141310486 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.730+204G>A	single nucleotide variant	not provided [RCV001562932]	Chr8:140438848 [GRCh38] Chr8:141448947 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3280-146C>A	single nucleotide variant	not provided [RCV001661169]	Chr8:139731374 [GRCh38] Chr8:140743617 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1768+181_1768+202dup	duplication	not provided [RCV001558519]	Chr8:140300266..140300267 [GRCh38] Chr8:141310365..141310366 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.-10-272C>G	single nucleotide variant	not provided [RCV001568484]	Chr8:140451655 [GRCh38] Chr8:141461754 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.731-138C>T	single nucleotide variant	not provided [RCV001560392]	Chr8:140435378 [GRCh38] Chr8:141445477 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2431+237C>T	single nucleotide variant	not provided [RCV001550087]	Chr8:140252540 [GRCh38] Chr8:141262639 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV002471721]\|not provided [RCV002571462]	Chr8:139910219 [GRCh38] Chr8:140922463 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:140699041-141497553)x3	copy number gain	not provided [RCV001006149]	Chr8:140699041..141497553 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3280-292C>T	single nucleotide variant	not provided [RCV001649922]	Chr8:139731520 [GRCh38] Chr8:140743763 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1768+284T>C	single nucleotide variant	not provided [RCV001639643]	Chr8:140300185 [GRCh38] Chr8:141310284 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1854+89T>A	single nucleotide variant	not provided [RCV001536422]	Chr8:140290904 [GRCh38] Chr8:141301003 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2811-155G>A	single nucleotide variant	not provided [RCV001674778]	Chr8:139910455 [GRCh38] Chr8:140922699 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.584+19C>T	single nucleotide variant	not provided [RCV001596392]	Chr8:140450771 [GRCh38] Chr8:141460870 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.2114+303C>T	single nucleotide variant	not provided [RCV001595688]	Chr8:140283586 [GRCh38] Chr8:141293685 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.730+299A>G	single nucleotide variant	not provided [RCV001654013]	Chr8:140438753 [GRCh38] Chr8:141448852 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2279-183_2279-182del	deletion	not provided [RCV001614625]	Chr8:140253111..140253112 [GRCh38] Chr8:141263210..141263211 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.3056-281T>C	single nucleotide variant	not provided [RCV001638252]	Chr8:139732483 [GRCh38] Chr8:140744726 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1495+126A>G	single nucleotide variant	not provided [RCV001594268]	Chr8:140359924 [GRCh38] Chr8:141370023 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2279-178T>C	single nucleotide variant	not provided [RCV001656994]	Chr8:140253107 [GRCh38] Chr8:141263206 [GRCh37] Chr8:8q24.3	benign
NM_031466.8(TRAPPC9):c.-125_-124insTACCGTGAGGGTCACGGGGG	microsatellite	not provided [RCV001009076]	Chr8:140458394..140458395 [GRCh38] Chr8:141468493..141468494 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.142del (p.Asp48fs)	deletion	not provided [RCV001092152]	Chr8:140451232 [GRCh38] Chr8:141461331 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.730+190A>C	single nucleotide variant	not provided [RCV001669083]	Chr8:140438862 [GRCh38] Chr8:141448961 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1768+257C>G	single nucleotide variant	not provided [RCV001609647]	Chr8:140300212 [GRCh38] Chr8:141310311 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.585-305A>G	single nucleotide variant	not provided [RCV001707295]	Chr8:140439502 [GRCh38] Chr8:141449601 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.3055+18A>G	single nucleotide variant	not provided [RCV001696430]	Chr8:139885861 [GRCh38] Chr8:140898105 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2114+60dup	duplication	not provided [RCV001649466]	Chr8:140283815..140283816 [GRCh38] Chr8:141293914..141293915 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1855-93dup	duplication	not provided [RCV001690680]	Chr8:140287826..140287827 [GRCh38] Chr8:141297925..141297926 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2964+120T>G	single nucleotide variant	not provided [RCV001683962]	Chr8:139910027 [GRCh38] Chr8:140922271 [GRCh37] Chr8:8q24.3	benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	copy number gain	not provided [RCV001006140]	Chr8:121042467..146295771 [GRCh37] Chr8:8q24.12-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:140852548-140953922)	copy number loss	Intellectual disability, autosomal recessive 13 [RCV001195117]	Chr8:140852548..140953922 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3055+11G>A	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001160670]\|not provided [RCV002070988]	Chr8:139885868 [GRCh38] Chr8:140898112 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
GRCh37/hg19 8q24.3(chr8:141016802-141446313)x3	copy number gain	not provided [RCV001259510]	Chr8:141016802..141446313 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.814C>A (p.Gln272Lys)	single nucleotide variant	Inborn genetic diseases [RCV002430055]\|Intellectual disability, autosomal recessive 13 [RCV004799345]\|not provided [RCV001255093]\|not specified [RCV001819962]	Chr8:140435157 [GRCh38] Chr8:141445256 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)	single nucleotide variant	Autism spectrum disorder [RCV003127735]\|Intellectual disability, autosomal recessive 13 [RCV001255732]	Chr8:139910191 [GRCh38] Chr8:140922435 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)	duplication	Intellectual disability, autosomal recessive 13 [RCV001255740]	Chr8:140300561..140300562 [GRCh38] Chr8:141310660..141310661 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.1782T>A (p.Val594=)	single nucleotide variant	not specified [RCV004783304]	Chr8:140291065 [GRCh38] Chr8:141301164 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2729del (p.Val910fs)	deletion	Inborn genetic diseases [RCV001267079]	Chr8:139988807 [GRCh38] Chr8:140999015 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter)	single nucleotide variant	Intellectual disability [RCV001260866]\|Intellectual disability, autosomal recessive 13 [RCV001328632]	Chr8:140451223 [GRCh38] Chr8:141461322 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_001160372.4(TRAPPC9):c.73A>G (p.Ile25Val)	single nucleotide variant	Inborn genetic diseases [RCV003355521]\|not provided [RCV001575417]	Chr8:140451301 [GRCh38] Chr8:141461400 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
GRCh37/hg19 8q24.3(chr8:141255310-141355635)x1	copy number loss	not provided [RCV001259508]	Chr8:141255310..141355635 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1496-335dup	duplication	not provided [RCV001581084]	Chr8:140311707..140311708 [GRCh38] Chr8:141321806..141321807 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.19A>G (p.Met7Val)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV004799449]	Chr8:140451355 [GRCh38] Chr8:141461454 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1952C>T (p.Pro651Leu)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001330394]	Chr8:140287637 [GRCh38] Chr8:141297736 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2278+2T>C	single nucleotide variant	Mental retardation, autosomal recessive 13 [RCV001336729]	Chr8:140275656 [GRCh38] Chr8:141285755 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3137G>A (p.Arg1046Gln)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001336734]	Chr8:139732121 [GRCh38] Chr8:140744364 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2795C>A (p.Ala932Asp)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001330395]	Chr8:139988741 [GRCh38] Chr8:140998949 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.860-86G>A	single nucleotide variant	not provided [RCV001539245]	Chr8:140426727 [GRCh38] Chr8:141436826 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.3272T>G (p.Leu1091Arg)	single nucleotide variant	not provided [RCV001368351]	Chr8:139731986 [GRCh38] Chr8:140744229 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3047T>C (p.Leu1016Pro)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001336732]	Chr8:139885887 [GRCh38] Chr8:140898131 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.166C>T (p.Arg56Cys)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001328633]\|not provided [RCV001863190]	Chr8:140451208 [GRCh38] Chr8:141461307 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1625A>G (p.His542Arg)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001336728]	Chr8:140300612 [GRCh38] Chr8:141310711 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.292A>G (p.Lys98Glu)	single nucleotide variant	not provided [RCV001370054]	Chr8:140451082 [GRCh38] Chr8:141461181 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1310C>A (p.Pro437His)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001336726]	Chr8:140371005 [GRCh38] Chr8:141381104 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.731-31_731-11del	microsatellite	Intellectual disability, autosomal recessive 13 [RCV001838664]\|not provided [RCV001515757]	Chr8:140435251..140435271 [GRCh38] Chr8:141445350..141445370 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.3279+213C>T	single nucleotide variant	not provided [RCV001539176]	Chr8:139731766 [GRCh38] Chr8:140744009 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1134+218dup	duplication	not provided [RCV001534454]	Chr8:140397394..140397395 [GRCh38] Chr8:141407493..141407494 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2557-36GT[7]	microsatellite	not provided [RCV001616788]	Chr8:140024103..140024104 [GRCh38] Chr8:141034200..141034201 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.3279+21C>T	single nucleotide variant	not provided [RCV001588211]	Chr8:139731958 [GRCh38] Chr8:140744201 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3056-150C>A	single nucleotide variant	not provided [RCV001588584]	Chr8:139732352 [GRCh38] Chr8:140744595 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001507258]	Chr8:140451135 [GRCh38] Chr8:141461234 [GRCh37] Chr8:8q24.3	likely pathogenic\|uncertain significance
NM_001160372.4(TRAPPC9):c.2115-112C>T	single nucleotide variant	not provided [RCV001643577]	Chr8:140275933 [GRCh38] Chr8:141286032 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.730+235C>T	single nucleotide variant	not provided [RCV001643589]	Chr8:140438817 [GRCh38] Chr8:141448916 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1981+94A>G	single nucleotide variant	not provided [RCV001715918]	Chr8:140287514 [GRCh38] Chr8:141297613 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1622+31A>G	single nucleotide variant	not provided [RCV001592170]	Chr8:140311217 [GRCh38] Chr8:141321316 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-204C>T	single nucleotide variant	not provided [RCV001383864]	Chr8:140458474 [GRCh38] Chr8:141468573 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_001160372.4(TRAPPC9):c.1281C>T (p.Ala427=)	single nucleotide variant	TRAPPC9-related disorder [RCV003976111]\|not provided [RCV001727462]	Chr8:140371034 [GRCh38] Chr8:141381133 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8q24.3(chr8:141320475-141375391)x1	copy number loss	not provided [RCV001834296]	Chr8:141320475..141375391 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2700-147C>T	single nucleotide variant	not provided [RCV001732288]	Chr8:139988983 [GRCh38] Chr8:140999191 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	copy number gain	See cases [RCV002285066]	Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
NM_001160372.4(TRAPPC9):c.125G>A (p.Ser42Asn)	single nucleotide variant	not provided [RCV001761134]	Chr8:140451249 [GRCh38] Chr8:141461348 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.998A>G (p.Tyr333Cys)	single nucleotide variant	Inborn genetic diseases [RCV004681241]\|not provided [RCV001763609]	Chr8:140405587 [GRCh38] Chr8:141415686 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.208_210delinsTAT (p.Asp70Tyr)	indel	not provided [RCV001771327]	Chr8:140451164..140451166 [GRCh38] Chr8:141461263..141461265 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.902A>G (p.Asn301Ser)	single nucleotide variant	Inborn genetic diseases [RCV003264088]\|not provided [RCV001771417]	Chr8:140405683 [GRCh38] Chr8:141415782 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.-4C>A	single nucleotide variant	Inborn genetic diseases [RCV003264089]\|not provided [RCV001771418]	Chr8:140451377 [GRCh38] Chr8:141461476 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139692209-141412715)x3	copy number gain	not provided [RCV001795856]	Chr8:139692209..141412715 [GRCh37] Chr8:8q24.23-24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.895A>G (p.Thr299Ala)	single nucleotide variant	not provided [RCV001774174]	Chr8:140405690 [GRCh38] Chr8:141415789 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3	copy number gain	not provided [RCV001795855]	Chr8:128878931..141662233 [GRCh37] Chr8:8q24.21-24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2901G>C (p.Glu967Asp)	single nucleotide variant	TRAPPC9-related disorder [RCV003948712]\|not provided [RCV001752588]	Chr8:139910210 [GRCh38] Chr8:140922454 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_031466.8(TRAPPC9):c.-124dup	duplication	Intellectual disability, autosomal recessive 13 [RCV001785082]\|not provided [RCV002541168]	Chr8:140458393..140458394 [GRCh38] Chr8:141468492..141468493 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2551G>A (p.Val851Met)	single nucleotide variant	Inborn genetic diseases [RCV004681253]\|Intellectual disability, autosomal recessive 13 [RCV001809254]\|not provided [RCV002541482]	Chr8:140221464 [GRCh38] Chr8:141231563 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3019G>A (p.Val1007Ile)	single nucleotide variant	not provided [RCV001794841]	Chr8:139885915 [GRCh38] Chr8:140898159 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1195G>A (p.Gly399Ser)	single nucleotide variant	not provided [RCV001797266]	Chr8:140371120 [GRCh38] Chr8:141381219 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1173C>T (p.Leu391=)	single nucleotide variant	not specified [RCV001817288]	Chr8:140371142 [GRCh38] Chr8:141381241 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1982-9C>T	single nucleotide variant	not specified [RCV001817347]	Chr8:140284030 [GRCh38] Chr8:141294129 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2982_2986dup (p.Glu996fs)	duplication	Abnormality of the nervous system [RCV001814413]	Chr8:139885947..139885948 [GRCh38] Chr8:140898191..140898192 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.2971C>T (p.Leu991=)	single nucleotide variant	not specified [RCV001820367]	Chr8:139885963 [GRCh38] Chr8:140898207 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1634T>G (p.Leu545Arg)	single nucleotide variant	not specified [RCV001820613]	Chr8:140300603 [GRCh38] Chr8:141310702 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2658G>A (p.Pro886=)	single nucleotide variant	not provided [RCV002074260]\|not specified [RCV001822219]	Chr8:140023978 [GRCh38] Chr8:141034075 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2076C>T (p.Pro692=)	single nucleotide variant	not provided [RCV002541960]\|not specified [RCV001822251]	Chr8:140283927 [GRCh38] Chr8:141294026 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-219G>A	single nucleotide variant	not provided [RCV002542514]\|not specified [RCV001817143]	Chr8:140458489 [GRCh38] Chr8:141468588 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1731C>T (p.Ile577=)	single nucleotide variant	not provided [RCV002542524]\|not specified [RCV001817349]	Chr8:140300506 [GRCh38] Chr8:141310605 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1533G>A (p.Thr511=)	single nucleotide variant	not specified [RCV001817350]	Chr8:140311337 [GRCh38] Chr8:141321436 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2741C>T (p.Thr914Ile)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV001809255]	Chr8:139988795 [GRCh38] Chr8:140999003 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2343G>T (p.Gln781His)	single nucleotide variant	not specified [RCV001819199]	Chr8:140252865 [GRCh38] Chr8:141262964 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.938G>A (p.Arg313His)	single nucleotide variant	not specified [RCV001819515]	Chr8:140405647 [GRCh38] Chr8:141415746 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV002482351]\|not provided [RCV001869658]\|not specified [RCV001822267]	Chr8:139732041 [GRCh38] Chr8:140744284 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1524G>C (p.Glu508Asp)	single nucleotide variant	Inborn genetic diseases [RCV002541967]\|not provided [RCV002542505]\|not specified [RCV001822299]	Chr8:140311346 [GRCh38] Chr8:141321445 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.937C>T (p.Arg313Cys)	single nucleotide variant	not provided [RCV002541968]\|not specified [RCV001822311]	Chr8:140405648 [GRCh38] Chr8:141415747 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1079G>A (p.Arg360Gln)	single nucleotide variant	not provided [RCV004801509]	Chr8:140397675 [GRCh38] Chr8:141407774 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1234G>A (p.Ala412Thr)	single nucleotide variant	not provided [RCV001824520]	Chr8:140371081 [GRCh38] Chr8:141381180 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_031466.8(TRAPPC9):c.-59T>C	single nucleotide variant	not provided [RCV002045916]	Chr8:140458329 [GRCh38] Chr8:141468428 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3279+5G>A	single nucleotide variant	not provided [RCV001873890]	Chr8:139731974 [GRCh38] Chr8:140744217 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1929C>G (p.Tyr643Ter)	single nucleotide variant	not provided [RCV001874521]	Chr8:140287660 [GRCh38] Chr8:141297759 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2047_2048delinsTA (p.Thr683Tyr)	indel	not provided [RCV002044744]	Chr8:140283955..140283956 [GRCh38] Chr8:141294054..141294055 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	copy number gain	not specified [RCV002053797]	Chr8:130863093..146295771 [GRCh37] Chr8:8q24.21-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:141016802-141086121)	copy number loss	not specified [RCV002053799]	Chr8:141016802..141086121 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3058G>A (p.Val1020Met)	single nucleotide variant	not provided [RCV002003975]	Chr8:139732200 [GRCh38] Chr8:140744443 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-286_-285delinsCC	indel	not provided [RCV002051035]	Chr8:140458555..140458556 [GRCh38] Chr8:141468654..141468655 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-234G>C	single nucleotide variant	not provided [RCV002015916]	Chr8:140458504 [GRCh38] Chr8:141468603 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3219C>G (p.His1073Gln)	single nucleotide variant	not provided [RCV002004852]	Chr8:139732039 [GRCh38] Chr8:140744282 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.858A>G (p.Pro286=)	single nucleotide variant	not provided [RCV001987224]	Chr8:140435113 [GRCh38] Chr8:141445212 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2632C>G (p.Leu878Val)	single nucleotide variant	not provided [RCV001968083]	Chr8:140024004 [GRCh38] Chr8:141034101 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-144G>C	single nucleotide variant	not provided [RCV002022690]	Chr8:140458414 [GRCh38] Chr8:141468513 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.383C>T (p.Pro128Leu)	single nucleotide variant	not provided [RCV002024523]	Chr8:140450991 [GRCh38] Chr8:141461090 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.550A>G (p.Lys184Glu)	single nucleotide variant	not provided [RCV001912367]	Chr8:140450824 [GRCh38] Chr8:141460923 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1964G>T (p.Gly655Val)	single nucleotide variant	not provided [RCV002003218]	Chr8:140287625 [GRCh38] Chr8:141297724 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:141016802-141446902)	copy number gain	not specified [RCV002053800]	Chr8:141016802..141446902 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:141286569-141519946)	copy number gain	not specified [RCV002053801]	Chr8:141286569..141519946 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1628T>C (p.Val543Ala)	single nucleotide variant	Inborn genetic diseases [RCV002545734]\|not provided [RCV002039822]	Chr8:140300609 [GRCh38] Chr8:141310708 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	copy number gain	not specified [RCV002053772]	Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3	pathogenic
NM_001160372.4(TRAPPC9):c.236G>T (p.Gly79Val)	single nucleotide variant	not provided [RCV002049944]	Chr8:140451138 [GRCh38] Chr8:141461237 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.289G>T (p.Glu97Ter)	single nucleotide variant	Inborn genetic diseases [RCV002352648]\|not provided [RCV002000034]	Chr8:140451085 [GRCh38] Chr8:141461184 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2957G>A (p.Trp986Ter)	single nucleotide variant	not provided [RCV002000027]	Chr8:139910154 [GRCh38] Chr8:140922398 [GRCh37] Chr8:8q24.3	pathogenic
NM_031466.8(TRAPPC9):c.-153G>C	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV004720338]\|not provided [RCV001916789]	Chr8:140458423 [GRCh38] Chr8:141468522 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.178C>T (p.His60Tyr)	single nucleotide variant	not provided [RCV001941050]	Chr8:140451196 [GRCh38] Chr8:141461295 [GRCh37] Chr8:8q24.3	uncertain significance
NC_000008.10:g.(?_141460869)_(141461502_?)del	deletion	not provided [RCV001963227]	Chr8:141460869..141461502 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3094G>A (p.Val1032Met)	single nucleotide variant	not provided [RCV001877406]	Chr8:139732164 [GRCh38] Chr8:140744407 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3437C>T (p.Ala1146Val)	single nucleotide variant	not provided [RCV001994378]	Chr8:139731071 [GRCh38] Chr8:140743314 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2596C>T (p.Pro866Ser)	single nucleotide variant	not provided [RCV002046823]	Chr8:140024040 [GRCh38] Chr8:141034137 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2749G>T (p.Glu917Ter)	single nucleotide variant	not provided [RCV001935048]	Chr8:139988787 [GRCh38] Chr8:140998995 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2700-2A>T	single nucleotide variant	not provided [RCV001957030]	Chr8:139988838 [GRCh38] Chr8:140999046 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.3405C>A (p.Cys1135Ter)	single nucleotide variant	not provided [RCV001996161]	Chr8:139731103 [GRCh38] Chr8:140743346 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2705G>A (p.Arg902Gln)	single nucleotide variant	Inborn genetic diseases [RCV002560577]\|not provided [RCV001933909]	Chr8:139988831 [GRCh38] Chr8:140999039 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1981+3A>G	single nucleotide variant	not provided [RCV001916971]	Chr8:140287605 [GRCh38] Chr8:141297704 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3400T>A (p.Phe1134Ile)	single nucleotide variant	not provided [RCV001978272]	Chr8:139731108 [GRCh38] Chr8:140743351 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1738A>C (p.Asn580His)	single nucleotide variant	not provided [RCV002047674]	Chr8:140300499 [GRCh38] Chr8:141310598 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-258_-257del	deletion	not provided [RCV001921602]	Chr8:140458527..140458528 [GRCh38] Chr8:141468626..141468627 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_001160372.4(TRAPPC9):c.2587T>A (p.Ser863Thr)	single nucleotide variant	not provided [RCV001977556]	Chr8:140024049 [GRCh38] Chr8:141034146 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1592C>T (p.Pro531Leu)	single nucleotide variant	not provided [RCV002013115]	Chr8:140311278 [GRCh38] Chr8:141321377 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3386T>C (p.Leu1129Pro)	single nucleotide variant	Inborn genetic diseases [RCV004043029]\|not provided [RCV001934273]	Chr8:139731122 [GRCh38] Chr8:140743365 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.241A>T (p.Ile81Phe)	single nucleotide variant	not provided [RCV001996239]	Chr8:140451133 [GRCh38] Chr8:141461232 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.80C>G (p.Ser27Cys)	single nucleotide variant	not provided [RCV001923793]	Chr8:140451294 [GRCh38] Chr8:141461393 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.923G>C (p.Ser308Thr)	single nucleotide variant	not provided [RCV001997637]	Chr8:140405662 [GRCh38] Chr8:141415761 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1988A>G (p.His663Arg)	single nucleotide variant	Inborn genetic diseases [RCV003170514]\|not provided [RCV002010570]	Chr8:140284015 [GRCh38] Chr8:141294114 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.625G>A (p.Val209Met)	single nucleotide variant	not provided [RCV001955898]	Chr8:140439157 [GRCh38] Chr8:141449256 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2902G>A (p.Glu968Lys)	single nucleotide variant	not provided [RCV001876731]	Chr8:139910209 [GRCh38] Chr8:140922453 [GRCh37] Chr8:8q24.3	uncertain significance
NC_000008.10:g.(?_141321327)_(141321493_?)del	deletion	not provided [RCV001974990]	Chr8:141321327..141321493 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.52G>A (p.Val18Met)	single nucleotide variant	Inborn genetic diseases [RCV002642111]\|not provided [RCV002015695]	Chr8:140451322 [GRCh38] Chr8:141461421 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.965A>G (p.Asp322Gly)	single nucleotide variant	not provided [RCV002046573]	Chr8:140405620 [GRCh38] Chr8:141415719 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1854+4T>C	single nucleotide variant	not provided [RCV001904676]	Chr8:140290989 [GRCh38] Chr8:141301088 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.859+20C>T	single nucleotide variant	not provided [RCV002125684]	Chr8:140435092 [GRCh38] Chr8:141445191 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1575C>T (p.Gly525=)	single nucleotide variant	not provided [RCV002169171]	Chr8:140311295 [GRCh38] Chr8:141321394 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1866C>T (p.Thr622=)	single nucleotide variant	Inborn genetic diseases [RCV002416442]\|not provided [RCV002129610]	Chr8:140287723 [GRCh38] Chr8:141297822 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.2699+17C>T	single nucleotide variant	not provided [RCV002129946]	Chr8:140023920 [GRCh38] Chr8:141034017 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.222C>T (p.His74=)	single nucleotide variant	not provided [RCV002088357]	Chr8:140451152 [GRCh38] Chr8:141461251 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3056-13G>T	single nucleotide variant	not provided [RCV002086569]	Chr8:139732215 [GRCh38] Chr8:140744458 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.60C>G (p.Val20=)	single nucleotide variant	not provided [RCV002125801]	Chr8:140451314 [GRCh38] Chr8:141461413 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3055+10C>T	single nucleotide variant	not provided [RCV002224874]	Chr8:139885869 [GRCh38] Chr8:140898113 [GRCh37] Chr8:8q24.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.1944C>T (p.Val648=)	single nucleotide variant	not provided [RCV002086152]	Chr8:140287645 [GRCh38] Chr8:141297744 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2064G>T (p.Val688=)	single nucleotide variant	not provided [RCV002146082]	Chr8:140283939 [GRCh38] Chr8:141294038 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2556+20G>A	single nucleotide variant	not provided [RCV002169288]	Chr8:140221439 [GRCh38] Chr8:141231538 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.390C>T (p.Thr130=)	single nucleotide variant	not provided [RCV002205719]	Chr8:140450984 [GRCh38] Chr8:141461083 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3318C>T (p.Leu1106=)	single nucleotide variant	not provided [RCV002125574]	Chr8:139731190 [GRCh38] Chr8:140743433 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.75C>T (p.Ile25=)	single nucleotide variant	not provided [RCV002147291]	Chr8:140451299 [GRCh38] Chr8:141461398 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.609C>G (p.Gly203=)	single nucleotide variant	not provided [RCV002104509]	Chr8:140439173 [GRCh38] Chr8:141449272 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1863C>T (p.Leu621=)	single nucleotide variant	not provided [RCV002114099]	Chr8:140287726 [GRCh38] Chr8:141297825 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2810+17C>A	single nucleotide variant	not provided [RCV002124850]	Chr8:139988709 [GRCh38] Chr8:140998917 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.321C>T (p.Gly107=)	single nucleotide variant	not provided [RCV002113816]	Chr8:140451053 [GRCh38] Chr8:141461152 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2114+9C>T	single nucleotide variant	not provided [RCV002117295]	Chr8:140283880 [GRCh38] Chr8:141293979 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2550C>T (p.His850=)	single nucleotide variant	not provided [RCV002135234]	Chr8:140221465 [GRCh38] Chr8:141231564 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2810+8T>C	single nucleotide variant	not provided [RCV002133625]	Chr8:139988718 [GRCh38] Chr8:140998926 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2557-13dup	duplication	not provided [RCV002152920]	Chr8:140024091..140024092 [GRCh38] Chr8:141034188..141034189 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.1352-5C>T	single nucleotide variant	Inborn genetic diseases [RCV002391234]\|not provided [RCV002096099]	Chr8:140360198 [GRCh38] Chr8:141370297 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.2760C>T (p.Val920=)	single nucleotide variant	not provided [RCV002071275]	Chr8:139988776 [GRCh38] Chr8:140998984 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2967C>T (p.Pro989=)	single nucleotide variant	not provided [RCV002194839]	Chr8:139885967 [GRCh38] Chr8:140898211 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2775C>T (p.Ser925=)	single nucleotide variant	Inborn genetic diseases [RCV002443268]\|not provided [RCV002194336]	Chr8:139988761 [GRCh38] Chr8:140998969 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3027G>A (p.Glu1009=)	single nucleotide variant	not provided [RCV002148291]	Chr8:139885907 [GRCh38] Chr8:140898151 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2700-12del	deletion	not provided [RCV002114220]	Chr8:139988848 [GRCh38] Chr8:140999056 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.3363C>T (p.His1121=)	single nucleotide variant	not provided [RCV002132900]	Chr8:139731145 [GRCh38] Chr8:140743388 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1768+11G>A	single nucleotide variant	not provided [RCV002155726]	Chr8:140300458 [GRCh38] Chr8:141310557 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.798T>C (p.Ser266=)	single nucleotide variant	not provided [RCV002180781]	Chr8:140435173 [GRCh38] Chr8:141445272 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2196G>A (p.Gln732=)	single nucleotide variant	Inborn genetic diseases [RCV002427579]\|not provided [RCV002218260]	Chr8:140275740 [GRCh38] Chr8:141285839 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2112C>T (p.Pro704=)	single nucleotide variant	not provided [RCV002203990]	Chr8:140283891 [GRCh38] Chr8:141293990 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2704C>T (p.Arg902Trp)	single nucleotide variant	Inborn genetic diseases [RCV002441247]\|not provided [RCV002159417]	Chr8:139988832 [GRCh38] Chr8:140999040 [GRCh37] Chr8:8q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001160372.4(TRAPPC9):c.1982-14del	deletion	not provided [RCV002083379]	Chr8:140284035 [GRCh38] Chr8:141294134 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3279+1G>A	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV002246785]	Chr8:139731978 [GRCh38] Chr8:140744221 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2810+18C>T	single nucleotide variant	not provided [RCV002139231]	Chr8:139988708 [GRCh38] Chr8:140998916 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2557-13del	deletion	not provided [RCV002081709]	Chr8:140024092 [GRCh38] Chr8:141034189 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2699+1G>A	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV002227923]	Chr8:140023936 [GRCh38] Chr8:141034033 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3099G>T (p.Ala1033=)	single nucleotide variant	not provided [RCV002143702]	Chr8:139732159 [GRCh38] Chr8:140744402 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1911G>A (p.Pro637=)	single nucleotide variant	Inborn genetic diseases [RCV002427602]\|not provided [RCV002083354]	Chr8:140287678 [GRCh38] Chr8:141297777 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.3114C>T (p.Gly1038=)	single nucleotide variant	Inborn genetic diseases [RCV002460187]\|TRAPPC9-related disorder [RCV003923701]\|not provided [RCV002081523]	Chr8:139732144 [GRCh38] Chr8:140744387 [GRCh37] Chr8:8q24.3	likely benign\|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.231C>T (p.Val77=)	single nucleotide variant	not provided [RCV002140866]	Chr8:140451143 [GRCh38] Chr8:141461242 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3056-13G>A	single nucleotide variant	not provided [RCV002121665]	Chr8:139732215 [GRCh38] Chr8:140744458 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	copy number gain	not provided [RCV002221452]	Chr8:96496503..146295711 [GRCh37] Chr8:8q22.1-24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3099G>A (p.Ala1033=)	single nucleotide variant	not provided [RCV002098848]	Chr8:139732159 [GRCh38] Chr8:140744402 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.354C>T (p.Phe118=)	single nucleotide variant	not provided [RCV002120419]	Chr8:140451020 [GRCh38] Chr8:141461119 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2283A>G (p.Lys761=)	single nucleotide variant	not provided [RCV002141886]	Chr8:140252925 [GRCh38] Chr8:141263024 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1040C>T (p.Ala347Val)	single nucleotide variant	not provided [RCV003110788]	Chr8:140397714 [GRCh38] Chr8:141407813 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1730T>C (p.Ile577Thr)	single nucleotide variant	not provided [RCV003114138]	Chr8:140300507 [GRCh38] Chr8:141310606 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.372C>T (p.Ile124=)	single nucleotide variant	not provided [RCV003118386]	Chr8:140451002 [GRCh38] Chr8:141461101 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.373G>A (p.Val125Met)	single nucleotide variant	not provided [RCV003114963]	Chr8:140451001 [GRCh38] Chr8:141461100 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1380G>T (p.Gln460His)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003120212]	Chr8:140360165 [GRCh38] Chr8:141370264 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.189C>T (p.Pro63=)	single nucleotide variant	not provided [RCV003121997]	Chr8:140451185 [GRCh38] Chr8:141461284 [GRCh37] Chr8:8q24.3	likely benign
NC_000008.10:g.(?_141285737)_(141285940_?)del	deletion	not provided [RCV003122808]	Chr8:141285737..141285940 [GRCh37] Chr8:8q24.3	pathogenic
NC_000008.10:g.(?_141034014)_(141034196_?)del	deletion	not provided [RCV003122809]	Chr8:141034014..141034196 [GRCh37] Chr8:8q24.3	pathogenic
NC_000008.10:g.(?_141262856)_(141321493_?)del	deletion	not provided [RCV003122810]	Chr8:141262856..141321493 [GRCh37] Chr8:8q24.3	uncertain significance
NC_000008.10:g.(?_141468360)_(141468663_?)dup	duplication	not provided [RCV003122811]	Chr8:141468360..141468663 [GRCh37] Chr8:8q24.3	uncertain significance
NC_000008.10:g.(?_141445191)_(141468663_?)dup	duplication	not provided [RCV003122812]	Chr8:141445191..141468663 [GRCh37] Chr8:8q24.3	uncertain significance
NC_000008.10:g.(?_139601496)_(141468663_?)dup	duplication	not provided [RCV003122813]	Chr8:139601496..141468663 [GRCh37] Chr8:8q24.23-24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3041C>T (p.Ala1014Val)	single nucleotide variant	Inborn genetic diseases [RCV003242608]	Chr8:139885893 [GRCh38] Chr8:140898137 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1994dup (p.Val666fs)	duplication	Autosomal recessive non-syndromic intellectual disability [RCV002243541]	Chr8:140284008..140284009 [GRCh38] Chr8:141294107..141294108 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.1658G>A (p.Arg553Gln)	single nucleotide variant	not provided [RCV002260854]	Chr8:140300579 [GRCh38] Chr8:141310678 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1532C>T (p.Thr511Met)	single nucleotide variant	not provided [RCV002273509]	Chr8:140311338 [GRCh38] Chr8:141321437 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.610C>T (p.Arg204Cys)	single nucleotide variant	not provided [RCV002269653]	Chr8:140439172 [GRCh38] Chr8:141449271 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3036_3040dup (p.Ala1014fs)	duplication	not provided [RCV002263489]	Chr8:139885893..139885894 [GRCh38] Chr8:140898137..140898138 [GRCh37] Chr8:8q24.3	pathogenic
NM_031466.8(TRAPPC9):c.-212G>C	single nucleotide variant	Inborn genetic diseases [RCV002434905]\|not provided [RCV003099932]	Chr8:140458482 [GRCh38] Chr8:141468581 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3240C>T (p.Thr1080=)	single nucleotide variant	Inborn genetic diseases [RCV002454620]\|not provided [RCV002293197]	Chr8:139732018 [GRCh38] Chr8:140744261 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1840C>T (p.Arg614Ter)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV002289409]	Chr8:140291007 [GRCh38] Chr8:141301106 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3420C>T (p.His1140=)	single nucleotide variant	Inborn genetic diseases [RCV002349031]\|not provided [RCV003094323]	Chr8:139731088 [GRCh38] Chr8:140743331 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2728G>A (p.Val910Ile)	single nucleotide variant	Inborn genetic diseases [RCV002435904]	Chr8:139988808 [GRCh38] Chr8:140999016 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-243C>T	single nucleotide variant	not provided [RCV002281481]	Chr8:140458513 [GRCh38] Chr8:141468612 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.2584T>C (p.Tyr862His)	single nucleotide variant	Inborn genetic diseases [RCV002437752]	Chr8:140024052 [GRCh38] Chr8:141034149 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3276C>T (p.Asp1092=)	single nucleotide variant	Inborn genetic diseases [RCV002455005]\|not provided [RCV003438998]	Chr8:139731982 [GRCh38] Chr8:140744225 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1732G>A (p.Ala578Thr)	single nucleotide variant	Inborn genetic diseases [RCV002419688]	Chr8:140300505 [GRCh38] Chr8:141310604 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1041G>A (p.Ala347=)	single nucleotide variant	Inborn genetic diseases [RCV002387579]	Chr8:140397713 [GRCh38] Chr8:141407812 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.265G>A (p.Ala89Thr)	single nucleotide variant	Inborn genetic diseases [RCV002344861]	Chr8:140451109 [GRCh38] Chr8:141461208 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.175del (p.His59fs)	deletion	Intellectual disability, autosomal recessive 13 [RCV002471718]	Chr8:140451199 [GRCh38] Chr8:141461298 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.1355C>T (p.Thr452Met)	single nucleotide variant	Inborn genetic diseases [RCV002403626]	Chr8:140360190 [GRCh38] Chr8:141370289 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1437C>G (p.Leu479=)	single nucleotide variant	Inborn genetic diseases [RCV002407426]\|not provided [RCV003097190]	Chr8:140360108 [GRCh38] Chr8:141370207 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1485G>T (p.Leu495Phe)	single nucleotide variant	not provided [RCV002296493]	Chr8:140360060 [GRCh38] Chr8:141370159 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2673C>T (p.Thr891=)	single nucleotide variant	Inborn genetic diseases [RCV002442046]	Chr8:140023963 [GRCh38] Chr8:141034060 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.457G>A (p.Glu153Lys)	single nucleotide variant	Inborn genetic diseases [RCV002393826]\|not provided [RCV003099665]	Chr8:140450917 [GRCh38] Chr8:141461016 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2852C>T (p.Pro951Leu)	single nucleotide variant	Inborn genetic diseases [RCV002320761]	Chr8:139910259 [GRCh38] Chr8:140922503 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1234G>T (p.Ala412Ser)	single nucleotide variant	Inborn genetic diseases [RCV002400819]\|Intellectual disability, autosomal recessive 13 [RCV003138246]\|not provided [RCV003095295]	Chr8:140371081 [GRCh38] Chr8:141381180 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2520C>A (p.Pro840=)	single nucleotide variant	Inborn genetic diseases [RCV002441732]\|not provided [RCV003102746]	Chr8:140221495 [GRCh38] Chr8:141231594 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2525G>A (p.Ser842Asn)	single nucleotide variant	Inborn genetic diseases [RCV002441781]	Chr8:140221490 [GRCh38] Chr8:141231589 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1170C>G (p.Ile390Met)	single nucleotide variant	Inborn genetic diseases [RCV002396786]	Chr8:140371145 [GRCh38] Chr8:141381244 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-162C>A	single nucleotide variant	Inborn genetic diseases [RCV002387664]	Chr8:140458432 [GRCh38] Chr8:141468531 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-69C>T	single nucleotide variant	Inborn genetic diseases [RCV002443864]\|not provided [RCV003098766]	Chr8:140458339 [GRCh38] Chr8:141468438 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1352-4G>A	single nucleotide variant	Inborn genetic diseases [RCV002394977]\|not provided [RCV003774433]	Chr8:140360197 [GRCh38] Chr8:141370296 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_001160372.4(TRAPPC9):c.1262C>T (p.Ala421Val)	single nucleotide variant	Inborn genetic diseases [RCV002403457]\|not provided [RCV003100721]	Chr8:140371053 [GRCh38] Chr8:141381152 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2144G>A (p.Gly715Asp)	single nucleotide variant	Inborn genetic diseases [RCV002459963]	Chr8:140275792 [GRCh38] Chr8:141285891 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1337A>G (p.Lys446Arg)	single nucleotide variant	Inborn genetic diseases [RCV002401290]\|not provided [RCV003100762]	Chr8:140370978 [GRCh38] Chr8:141381077 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1958C>T (p.Thr653Met)	single nucleotide variant	Inborn genetic diseases [RCV002443565]\|not provided [RCV003101169]	Chr8:140287631 [GRCh38] Chr8:141297730 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-68C>T	single nucleotide variant	Autism spectrum disorder [RCV003126252]\|Inborn genetic diseases [RCV002446057]	Chr8:140458338 [GRCh38] Chr8:141468437 [GRCh37] Chr8:8q24.3	likely pathogenic\|uncertain significance
NM_001160372.4(TRAPPC9):c.2166A>G (p.Val722=)	single nucleotide variant	Inborn genetic diseases [RCV002430733]\|TRAPPC9-related disorder [RCV003943404]	Chr8:140275770 [GRCh38] Chr8:141285869 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2353G>T (p.Val785Leu)	single nucleotide variant	not provided [RCV002298252]	Chr8:140252855 [GRCh38] Chr8:141262954 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.938G>T (p.Arg313Leu)	single nucleotide variant	Inborn genetic diseases [RCV002362229]	Chr8:140405647 [GRCh38] Chr8:141415746 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1533G>T (p.Thr511=)	single nucleotide variant	Inborn genetic diseases [RCV002410460]\|not provided [RCV003100867]	Chr8:140311337 [GRCh38] Chr8:141321436 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2800G>A (p.Glu934Lys)	single nucleotide variant	Inborn genetic diseases [RCV002325836]	Chr8:139988736 [GRCh38] Chr8:140998944 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-16G>A	single nucleotide variant	Inborn genetic diseases [RCV002441510]\|not provided [RCV003102229]	Chr8:140458286 [GRCh38] Chr8:141468385 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1434C>T (p.Ala478=)	single nucleotide variant	Inborn genetic diseases [RCV002414844]	Chr8:140360111 [GRCh38] Chr8:141370210 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1632A>G (p.Lys544=)	single nucleotide variant	Inborn genetic diseases [RCV002410799]\|not provided [RCV003100938]	Chr8:140300605 [GRCh38] Chr8:141310704 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.761T>G (p.Val254Gly)	single nucleotide variant	Inborn genetic diseases [RCV002414747]	Chr8:140435210 [GRCh38] Chr8:141445309 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3249C>G (p.Phe1083Leu)	single nucleotide variant	Inborn genetic diseases [RCV002459505]\|not provided [RCV003099557]	Chr8:139732009 [GRCh38] Chr8:140744252 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1994C>T (p.Thr665Met)	single nucleotide variant	Inborn genetic diseases [RCV002446191]\|not provided [RCV003101200]	Chr8:140284009 [GRCh38] Chr8:141294108 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1642C>A (p.Leu548Ile)	single nucleotide variant	Inborn genetic diseases [RCV002410998]	Chr8:140300595 [GRCh38] Chr8:141310694 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.912C>T (p.Asn304=)	single nucleotide variant	Inborn genetic diseases [RCV002345165]	Chr8:140405673 [GRCh38] Chr8:141415772 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2307G>T (p.Trp769Cys)	single nucleotide variant	Inborn genetic diseases [RCV002426264]	Chr8:140252901 [GRCh38] Chr8:141263000 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)	deletion	Intellectual disability, autosomal recessive 13 [RCV002308532]	Chr8:140287661 [GRCh38] Chr8:141297760 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.1355C>A (p.Thr452Lys)	single nucleotide variant	Inborn genetic diseases [RCV002403624]\|not provided [RCV003097056]	Chr8:140360190 [GRCh38] Chr8:141370289 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1618G>A (p.Val540Ile)	single nucleotide variant	Inborn genetic diseases [RCV002410560]\|not provided [RCV003097345]	Chr8:140311252 [GRCh38] Chr8:141321351 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.598C>T (p.Arg200Trp)	single nucleotide variant	Inborn genetic diseases [RCV002449868]	Chr8:140439184 [GRCh38] Chr8:141449283 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2448T>C (p.Ser816=)	single nucleotide variant	not provided [RCV002863148]	Chr8:140221567 [GRCh38] Chr8:141231666 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.420C>G (p.Asp140Glu)	single nucleotide variant	Inborn genetic diseases [RCV002969221]	Chr8:140450954 [GRCh38] Chr8:141461053 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1599C>T (p.Pro533=)	single nucleotide variant	not provided [RCV002839113]	Chr8:140311271 [GRCh38] Chr8:141321370 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.322T>A (p.Ser108Thr)	single nucleotide variant	not provided [RCV002863231]	Chr8:140451052 [GRCh38] Chr8:141461151 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.542C>T (p.Pro181Leu)	single nucleotide variant	Inborn genetic diseases [RCV004681550]\|not provided [RCV002771545]	Chr8:140450832 [GRCh38] Chr8:141460931 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1009-15C>T	single nucleotide variant	not provided [RCV002726801]	Chr8:140397760 [GRCh38] Chr8:141407859 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2920C>G (p.Arg974Gly)	single nucleotide variant	not provided [RCV002511372]	Chr8:139910191 [GRCh38] Chr8:140922435 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.342G>A (p.Arg114=)	single nucleotide variant	not provided [RCV002994168]	Chr8:140451032 [GRCh38] Chr8:141461131 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2699+18G>A	single nucleotide variant	not provided [RCV002771464]	Chr8:140023919 [GRCh38] Chr8:141034016 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3279+17A>G	single nucleotide variant	not provided [RCV002771195]	Chr8:139731962 [GRCh38] Chr8:140744205 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1593G>A (p.Pro531=)	single nucleotide variant	not provided [RCV002616820]	Chr8:140311277 [GRCh38] Chr8:141321376 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1109A>G (p.Asn370Ser)	single nucleotide variant	Inborn genetic diseases [RCV002794008]	Chr8:140397645 [GRCh38] Chr8:141407744 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2108T>C (p.Leu703Pro)	single nucleotide variant	not provided [RCV002820033]	Chr8:140283895 [GRCh38] Chr8:141293994 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3056-10T>A	single nucleotide variant	not provided [RCV003035219]	Chr8:139732212 [GRCh38] Chr8:140744455 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2521G>A (p.Glu841Lys)	single nucleotide variant	Inborn genetic diseases [RCV002618175]\|not provided [RCV002618174]	Chr8:140221494 [GRCh38] Chr8:141231593 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3199G>A (p.Asp1067Asn)	single nucleotide variant	not provided [RCV002690095]	Chr8:139732059 [GRCh38] Chr8:140744302 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.877A>G (p.Ile293Val)	single nucleotide variant	not provided [RCV002690244]	Chr8:140426624 [GRCh38] Chr8:141436723 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1654C>T (p.Leu552Phe)	single nucleotide variant	Inborn genetic diseases [RCV002689439]	Chr8:140300583 [GRCh38] Chr8:141310682 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1227C>T (p.Arg409=)	single nucleotide variant	TRAPPC9-related disorder [RCV004747120]\|not provided [RCV002726519]	Chr8:140371088 [GRCh38] Chr8:141381187 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3257C>G (p.Ser1086Cys)	single nucleotide variant	Inborn genetic diseases [RCV004064291]\|not provided [RCV002511173]	Chr8:139732001 [GRCh38] Chr8:140744244 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1937C>T (p.Thr646Met)	single nucleotide variant	not provided [RCV002686326]	Chr8:140287652 [GRCh38] Chr8:141297751 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2556G>A (p.Lys852=)	single nucleotide variant	not provided [RCV002730451]	Chr8:140221459 [GRCh38] Chr8:141231558 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1981G>A (p.Gly661Ser)	single nucleotide variant	Inborn genetic diseases [RCV002754809]	Chr8:140287608 [GRCh38] Chr8:141297707 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1587G>T (p.Leu529=)	single nucleotide variant	not provided [RCV002968019]	Chr8:140311283 [GRCh38] Chr8:141321382 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1069A>G (p.Ile357Val)	single nucleotide variant	Inborn genetic diseases [RCV002860970]	Chr8:140397685 [GRCh38] Chr8:141407784 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-26G>A	single nucleotide variant	not provided [RCV002615607]	Chr8:140458296 [GRCh38] Chr8:141468395 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1009-8C>T	single nucleotide variant	not provided [RCV002972282]	Chr8:140397753 [GRCh38] Chr8:141407852 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1895C>T (p.Ala632Val)	single nucleotide variant	not provided [RCV003075603]	Chr8:140287694 [GRCh38] Chr8:141297793 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2709G>A (p.Gln903=)	single nucleotide variant	not provided [RCV002996065]	Chr8:139988827 [GRCh38] Chr8:140999035 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1713C>T (p.Phe571=)	single nucleotide variant	not provided [RCV002843563]	Chr8:140300524 [GRCh38] Chr8:141310623 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8q24.3(chr8:141352715-141656635)x3	copy number gain	not provided [RCV002475849]	Chr8:141352715..141656635 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2421T>C (p.Asp807=)	single nucleotide variant	not provided [RCV002972241]	Chr8:140252787 [GRCh38] Chr8:141262886 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2107C>T (p.Leu703=)	single nucleotide variant	not provided [RCV002975169]	Chr8:140283896 [GRCh38] Chr8:141293995 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.620_623dup (p.His208fs)	duplication	not provided [RCV002819321]	Chr8:140439158..140439159 [GRCh38] Chr8:141449257..141449258 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2954dup (p.Cys985fs)	duplication	not provided [RCV002838513]	Chr8:139910156..139910157 [GRCh38] Chr8:140922400..140922401 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.661G>A (p.Asp221Asn)	single nucleotide variant	not provided [RCV002796655]	Chr8:140439121 [GRCh38] Chr8:141449220 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3163G>C (p.Val1055Leu)	single nucleotide variant	not provided [RCV002740120]	Chr8:139732095 [GRCh38] Chr8:140744338 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.150G>C (p.Gln50His)	single nucleotide variant	not provided [RCV003039250]	Chr8:140451224 [GRCh38] Chr8:141461323 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3121G>A (p.Val1041Met)	single nucleotide variant	not provided [RCV002571984]	Chr8:139732137 [GRCh38] Chr8:140744380 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3135G>A (p.Val1045=)	single nucleotide variant	not provided [RCV003039542]	Chr8:139732123 [GRCh38] Chr8:140744366 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2117C>G (p.Ser706Cys)	single nucleotide variant	not provided [RCV003021936]	Chr8:140275819 [GRCh38] Chr8:141285918 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2293G>A (p.Asp765Asn)	single nucleotide variant	not provided [RCV002914427]	Chr8:140252915 [GRCh38] Chr8:141263014 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1005C>G (p.Ser335Arg)	single nucleotide variant	Inborn genetic diseases [RCV002739191]	Chr8:140405580 [GRCh38] Chr8:141415679 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-231C>T	single nucleotide variant	Inborn genetic diseases [RCV002707818]	Chr8:140458501 [GRCh38] Chr8:141468600 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.616C>T (p.Arg206Trp)	single nucleotide variant	Inborn genetic diseases [RCV002692401]	Chr8:140439166 [GRCh38] Chr8:141449265 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2203A>C (p.Ile735Leu)	single nucleotide variant	not provided [RCV002999651]	Chr8:140275733 [GRCh38] Chr8:141285832 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-128G>T	single nucleotide variant	not provided [RCV002785800]	Chr8:140458398 [GRCh38] Chr8:141468497 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1965A>G (p.Gly655=)	single nucleotide variant	not provided [RCV002622956]	Chr8:140287624 [GRCh38] Chr8:141297723 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2539G>A (p.Asp847Asn)	single nucleotide variant	Inborn genetic diseases [RCV002693764]	Chr8:140221476 [GRCh38] Chr8:141231575 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2810+1G>A	single nucleotide variant	not provided [RCV003018292]	Chr8:139988725 [GRCh38] Chr8:140998933 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.1013A>T (p.Lys338Met)	single nucleotide variant	Inborn genetic diseases [RCV002868793]	Chr8:140397741 [GRCh38] Chr8:141407840 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1622+9G>C	single nucleotide variant	not provided [RCV003018345]	Chr8:140311239 [GRCh38] Chr8:141321338 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.731-19_731-13del	microsatellite	not provided [RCV002691140]	Chr8:140435253..140435259 [GRCh38] Chr8:141445352..141445358 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3055+8C>T	single nucleotide variant	not provided [RCV002867388]	Chr8:139885871 [GRCh38] Chr8:140898115 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1622+3G>A	single nucleotide variant	not provided [RCV003035337]	Chr8:140311245 [GRCh38] Chr8:141321344 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.731-5C>A	single nucleotide variant	not provided [RCV002909549]	Chr8:140435245 [GRCh38] Chr8:141445344 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1856_1857insACCAA (p.Leu620fs)	insertion	not provided [RCV002846608]	Chr8:140287732..140287733 [GRCh38] Chr8:141297831..141297832 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3007C>T (p.Leu1003=)	single nucleotide variant	not provided [RCV002620959]	Chr8:139885927 [GRCh38] Chr8:140898171 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2605A>G (p.Thr869Ala)	single nucleotide variant	not provided [RCV002590568]	Chr8:140024031 [GRCh38] Chr8:141034128 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.731-38_731-19del	deletion	not provided [RCV002912707]	Chr8:140435259..140435278 [GRCh38] Chr8:141445358..141445377 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3273C>T (p.Leu1091=)	single nucleotide variant	not provided [RCV002592937]	Chr8:139731985 [GRCh38] Chr8:140744228 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3292G>A (p.Gly1098Ser)	single nucleotide variant	Inborn genetic diseases [RCV003308281]\|not provided [RCV002781137]	Chr8:139731216 [GRCh38] Chr8:140743459 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.183C>G (p.Tyr61Ter)	single nucleotide variant	not provided [RCV002914002]	Chr8:140451191 [GRCh38] Chr8:141461290 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.1855-15C>T	single nucleotide variant	not provided [RCV002570276]	Chr8:140287749 [GRCh38] Chr8:141297848 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.-10-5A>G	single nucleotide variant	not provided [RCV002847118]	Chr8:140451388 [GRCh38] Chr8:141461487 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.602G>A (p.Cys201Tyr)	single nucleotide variant	not provided [RCV002706310]	Chr8:140439180 [GRCh38] Chr8:141449279 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1537A>T (p.Lys513Ter)	single nucleotide variant	not provided [RCV003018293]	Chr8:140311333 [GRCh38] Chr8:141321432 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2743G>A (p.Glu915Lys)	single nucleotide variant	Inborn genetic diseases [RCV002662297]	Chr8:139988793 [GRCh38] Chr8:140999001 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2582A>G (p.Lys861Arg)	single nucleotide variant	not provided [RCV002621202]	Chr8:140024054 [GRCh38] Chr8:141034151 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2183A>G (p.Asn728Ser)	single nucleotide variant	not provided [RCV002620513]	Chr8:140275753 [GRCh38] Chr8:141285852 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1495+12C>G	single nucleotide variant	not provided [RCV002805851]	Chr8:140360038 [GRCh38] Chr8:141370137 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.135C>T (p.Ser45=)	single nucleotide variant	not provided [RCV002626237]	Chr8:140451239 [GRCh38] Chr8:141461338 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2485C>T (p.Arg829Trp)	single nucleotide variant	Inborn genetic diseases [RCV002937902]\|not provided [RCV002918971]	Chr8:140221530 [GRCh38] Chr8:141231629 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2055C>G (p.Gly685=)	single nucleotide variant	not provided [RCV002791507]	Chr8:140283948 [GRCh38] Chr8:141294047 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2824G>A (p.Val942Met)	single nucleotide variant	not provided [RCV002596335]	Chr8:139910287 [GRCh38] Chr8:140922531 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.652A>G (p.Met218Val)	single nucleotide variant	not provided [RCV002875749]	Chr8:140439130 [GRCh38] Chr8:141449229 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.584+16G>T	single nucleotide variant	not provided [RCV002626921]	Chr8:140450774 [GRCh38] Chr8:141460873 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1872A>C (p.Gly624=)	single nucleotide variant	not provided [RCV002876817]	Chr8:140287717 [GRCh38] Chr8:141297816 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.806G>A (p.Arg269Gln)	single nucleotide variant	not provided [RCV002596456]	Chr8:140435165 [GRCh38] Chr8:141445264 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1323G>T (p.Leu441=)	single nucleotide variant	not provided [RCV002851613]	Chr8:140370992 [GRCh38] Chr8:141381091 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.428C>T (p.Thr143Met)	single nucleotide variant	not provided [RCV002805549]	Chr8:140450946 [GRCh38] Chr8:141461045 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1057C>T (p.Arg353Cys)	single nucleotide variant	not provided [RCV002594998]	Chr8:140397697 [GRCh38] Chr8:141407796 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3436G>C (p.Ala1146Pro)	single nucleotide variant	not provided [RCV003024836]	Chr8:139731072 [GRCh38] Chr8:140743315 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2557-11dup	duplication	not provided [RCV002574118]	Chr8:140024089..140024090 [GRCh38] Chr8:141034186..141034187 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2923G>A (p.Gly975Ser)	single nucleotide variant	not provided [RCV002710369]	Chr8:139910188 [GRCh38] Chr8:140922432 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2908C>T (p.Arg970Trp)	single nucleotide variant	not provided [RCV002594324]	Chr8:139910203 [GRCh38] Chr8:140922447 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2985C>T (p.Gly995=)	single nucleotide variant	not provided [RCV002574829]	Chr8:139885949 [GRCh38] Chr8:140898193 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2114+11C>T	single nucleotide variant	not provided [RCV002572873]	Chr8:140283878 [GRCh38] Chr8:141293977 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.284C>T (p.Thr95Ile)	single nucleotide variant	not provided [RCV003004950]	Chr8:140451090 [GRCh38] Chr8:141461189 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1488G>A (p.Ser496=)	single nucleotide variant	not provided [RCV003083063]\|not specified [RCV004783011]	Chr8:140360057 [GRCh38] Chr8:141370156 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1942G>A (p.Val648Ile)	single nucleotide variant	Inborn genetic diseases [RCV002786224]\|not provided [RCV002786223]	Chr8:140287647 [GRCh38] Chr8:141297746 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2700-17T>G	single nucleotide variant	not provided [RCV002801420]	Chr8:139988853 [GRCh38] Chr8:140999061 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1495+3G>C	single nucleotide variant	not provided [RCV002852215]	Chr8:140360047 [GRCh38] Chr8:141370146 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2478G>A (p.Gln826=)	single nucleotide variant	not provided [RCV002745344]	Chr8:140221537 [GRCh38] Chr8:141231636 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3013C>T (p.Gln1005Ter)	single nucleotide variant	not provided [RCV002830131]	Chr8:139885921 [GRCh38] Chr8:140898165 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.3150G>T (p.Arg1050=)	single nucleotide variant	not provided [RCV002572662]	Chr8:139732108 [GRCh38] Chr8:140744351 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.223C>T (p.Arg75Cys)	single nucleotide variant	not provided [RCV002700125]	Chr8:140451151 [GRCh38] Chr8:141461250 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.372C>G (p.Ile124Met)	single nucleotide variant	not provided [RCV002575193]	Chr8:140451002 [GRCh38] Chr8:141461101 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2706G>A (p.Arg902=)	single nucleotide variant	not provided [RCV002711831]	Chr8:139988830 [GRCh38] Chr8:140999038 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3120C>T (p.Pro1040=)	single nucleotide variant	not provided [RCV002572967]	Chr8:139732138 [GRCh38] Chr8:140744381 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1296C>G (p.Leu432=)	single nucleotide variant	not provided [RCV002642660]	Chr8:140371019 [GRCh38] Chr8:141381118 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.300C>T (p.His100=)	single nucleotide variant	not provided [RCV002643927]	Chr8:140451074 [GRCh38] Chr8:141461173 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2099G>C (p.Ser700Thr)	single nucleotide variant	not provided [RCV003006162]	Chr8:140283904 [GRCh38] Chr8:141294003 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2328C>T (p.Ala776=)	single nucleotide variant	not provided [RCV002667718]	Chr8:140252880 [GRCh38] Chr8:141262979 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3310G>A (p.Gly1104Arg)	single nucleotide variant	not provided [RCV002594144]	Chr8:139731198 [GRCh38] Chr8:140743441 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.391G>A (p.Asp131Asn)	single nucleotide variant	Inborn genetic diseases [RCV004068056]\|not provided [RCV002958398]	Chr8:140450983 [GRCh38] Chr8:141461082 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3257C>T (p.Ser1086Phe)	single nucleotide variant	Inborn genetic diseases [RCV002916364]	Chr8:139732001 [GRCh38] Chr8:140744244 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1134+11G>A	single nucleotide variant	not provided [RCV002626073]	Chr8:140397609 [GRCh38] Chr8:141407708 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.975C>T (p.Asp325=)	single nucleotide variant	not provided [RCV002700220]	Chr8:140405610 [GRCh38] Chr8:141415709 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1348A>G (p.Arg450Gly)	single nucleotide variant	not provided [RCV002985387]	Chr8:140370967 [GRCh38] Chr8:141381066 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-160C>T	single nucleotide variant	not provided [RCV002711612]	Chr8:140458430 [GRCh38] Chr8:141468529 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2990C>T (p.Ala997Val)	single nucleotide variant	not provided [RCV002921885]	Chr8:139885944 [GRCh38] Chr8:140898188 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1959G>A (p.Thr653=)	single nucleotide variant	not provided [RCV003090477]	Chr8:140287630 [GRCh38] Chr8:141297729 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2933T>C (p.Ile978Thr)	single nucleotide variant	not provided [RCV002650633]	Chr8:139910178 [GRCh38] Chr8:140922422 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3174C>T (p.Phe1058=)	single nucleotide variant	not provided [RCV002962095]	Chr8:139732084 [GRCh38] Chr8:140744327 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3204C>G (p.His1068Gln)	single nucleotide variant	not provided [RCV002631656]	Chr8:139732054 [GRCh38] Chr8:140744297 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.995C>T (p.Ser332Phe)	single nucleotide variant	not provided [RCV002811758]	Chr8:140405590 [GRCh38] Chr8:141415689 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.860-12T>C	single nucleotide variant	not provided [RCV003031969]	Chr8:140426653 [GRCh38] Chr8:141436752 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1495+10C>A	single nucleotide variant	not provided [RCV002580193]	Chr8:140360040 [GRCh38] Chr8:141370139 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2520C>T (p.Pro840=)	single nucleotide variant	not provided [RCV002602826]	Chr8:140221495 [GRCh38] Chr8:141231594 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.990G>A (p.Ala330=)	single nucleotide variant	TRAPPC9-related disorder [RCV004747187]\|not provided [RCV003062902]	Chr8:140405595 [GRCh38] Chr8:141415694 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.114T>A (p.Ile38=)	single nucleotide variant	not provided [RCV002579098]	Chr8:140451260 [GRCh38] Chr8:141461359 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.956G>T (p.Ser319Ile)	single nucleotide variant	not provided [RCV003029035]	Chr8:140405629 [GRCh38] Chr8:141415728 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-174G>T	single nucleotide variant	not provided [RCV003063890]	Chr8:140458444 [GRCh38] Chr8:141468543 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.949T>A (p.Cys317Ser)	single nucleotide variant	Inborn genetic diseases [RCV002856725]\|not provided [RCV002835141]	Chr8:140405636 [GRCh38] Chr8:141415735 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1521A>G (p.Leu507=)	single nucleotide variant	TRAPPC9-related disorder [RCV003898477]\|not provided [RCV002676132]	Chr8:140311349 [GRCh38] Chr8:141321448 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2776G>A (p.Glu926Lys)	single nucleotide variant	Inborn genetic diseases [RCV004068227]\|not provided [RCV002966883]	Chr8:139988760 [GRCh38] Chr8:140998968 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3324C>T (p.Phe1108=)	single nucleotide variant	not provided [RCV003011201]	Chr8:139731184 [GRCh38] Chr8:140743427 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1293C>T (p.Leu431=)	single nucleotide variant	not provided [RCV002632639]	Chr8:140371022 [GRCh38] Chr8:141381121 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1729A>G (p.Ile577Val)	single nucleotide variant	not provided [RCV003010487]	Chr8:140300508 [GRCh38] Chr8:141310607 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2278+1G>T	single nucleotide variant	not provided [RCV003028728]	Chr8:140275657 [GRCh38] Chr8:141285756 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_031466.8(TRAPPC9):c.-283T>C	single nucleotide variant	not provided [RCV002649594]	Chr8:140458553 [GRCh38] Chr8:141468652 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.788G>A (p.Gly263Asp)	single nucleotide variant	not provided [RCV002746035]	Chr8:140435183 [GRCh38] Chr8:141445282 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3273C>G (p.Leu1091=)	single nucleotide variant	not provided [RCV002806552]	Chr8:139731985 [GRCh38] Chr8:140744228 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1899G>A (p.Ala633=)	single nucleotide variant	not provided [RCV002962545]	Chr8:140287690 [GRCh38] Chr8:141297789 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2115-16CTT[2]	microsatellite	not provided [RCV002937110]	Chr8:140275829..140275831 [GRCh38] Chr8:141285928..141285930 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3210C>T (p.Asn1070=)	single nucleotide variant	not provided [RCV003087694]	Chr8:139732048 [GRCh38] Chr8:140744291 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2115-10C>A	single nucleotide variant	not provided [RCV002715876]	Chr8:140275831 [GRCh38] Chr8:141285930 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2748T>C (p.His916=)	single nucleotide variant	not provided [RCV002746404]	Chr8:139988788 [GRCh38] Chr8:140998996 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1768+12A>G	single nucleotide variant	not provided [RCV002577189]	Chr8:140300457 [GRCh38] Chr8:141310556 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.252A>G (p.Thr84=)	single nucleotide variant	not provided [RCV003009679]	Chr8:140451122 [GRCh38] Chr8:141461221 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.775C>T (p.Pro259Ser)	single nucleotide variant	Inborn genetic diseases [RCV002879394]	Chr8:140435196 [GRCh38] Chr8:141445295 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2808G>A (p.Gln936=)	single nucleotide variant	not provided [RCV003088857]	Chr8:139988728 [GRCh38] Chr8:140998936 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2519C>T (p.Pro840Leu)	single nucleotide variant	not provided [RCV002601611]	Chr8:140221496 [GRCh38] Chr8:141231595 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-55C>T	single nucleotide variant	not provided [RCV002631775]	Chr8:140458325 [GRCh38] Chr8:141468424 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1981+12C>G	single nucleotide variant	not provided [RCV002576609]	Chr8:140287596 [GRCh38] Chr8:141297695 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.271G>A (p.Asp91Asn)	single nucleotide variant	Inborn genetic diseases [RCV003274003]\|not provided [RCV002717044]	Chr8:140451103 [GRCh38] Chr8:141461202 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-71G>T	single nucleotide variant	not provided [RCV003087205]	Chr8:140458341 [GRCh38] Chr8:141468440 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1769-13G>A	single nucleotide variant	not provided [RCV002580646]	Chr8:140291091 [GRCh38] Chr8:141301190 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1626T>A (p.His542Gln)	single nucleotide variant	not provided [RCV002812016]	Chr8:140300611 [GRCh38] Chr8:141310710 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2378A>G (p.Lys793Arg)	single nucleotide variant	not provided [RCV002600302]	Chr8:140252830 [GRCh38] Chr8:141262929 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1981+15T>G	single nucleotide variant	not provided [RCV003048235]	Chr8:140287593 [GRCh38] Chr8:141297692 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2875C>A (p.Gln959Lys)	single nucleotide variant	not provided [RCV002631364]	Chr8:139910236 [GRCh38] Chr8:140922480 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1829C>T (p.Pro610Leu)	single nucleotide variant	not provided [RCV002717268]	Chr8:140291018 [GRCh38] Chr8:141301117 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2114+16G>A	single nucleotide variant	not provided [RCV002899020]	Chr8:140283873 [GRCh38] Chr8:141293972 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.453C>T (p.Phe151=)	single nucleotide variant	not provided [RCV002600803]	Chr8:140450921 [GRCh38] Chr8:141461020 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3279+4C>A	single nucleotide variant	not provided [RCV003046355]	Chr8:139731975 [GRCh38] Chr8:140744218 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3113G>T (p.Gly1038Val)	single nucleotide variant	not provided [RCV002647673]	Chr8:139732145 [GRCh38] Chr8:140744388 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.562G>T (p.Val188Leu)	single nucleotide variant	not provided [RCV002922974]	Chr8:140450812 [GRCh38] Chr8:141460911 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.770A>C (p.His257Pro)	single nucleotide variant	not provided [RCV002938031]	Chr8:140435201 [GRCh38] Chr8:141445300 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2031C>G (p.Asn677Lys)	single nucleotide variant	not provided [RCV002933621]	Chr8:140283972 [GRCh38] Chr8:141294071 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1487C>T (p.Ser496Leu)	single nucleotide variant	not provided [RCV002598349]	Chr8:140360058 [GRCh38] Chr8:141370157 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1413C>T (p.Ser471=)	single nucleotide variant	not provided [RCV002598350]	Chr8:140360132 [GRCh38] Chr8:141370231 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.465G>C (p.Leu155=)	single nucleotide variant	not provided [RCV002653031]	Chr8:140450909 [GRCh38] Chr8:141461008 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.886+3_886+6dup	duplication	not provided [RCV002582611]	Chr8:140426608..140426609 [GRCh38] Chr8:141436707..141436708 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.603C>T (p.Cys201=)	single nucleotide variant	not provided [RCV002721505]	Chr8:140439179 [GRCh38] Chr8:141449278 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1194C>G (p.Ile398Met)	single nucleotide variant	not provided [RCV002725290]	Chr8:140371121 [GRCh38] Chr8:141381220 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2263G>T (p.Val755Phe)	single nucleotide variant	not provided [RCV002654196]	Chr8:140275673 [GRCh38] Chr8:141285772 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2192G>A (p.Ser731Asn)	single nucleotide variant	Inborn genetic diseases [RCV003274088]\|not provided [RCV002942337]	Chr8:140275744 [GRCh38] Chr8:141285843 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3080G>A (p.Cys1027Tyr)	single nucleotide variant	not provided [RCV002605153]	Chr8:139732178 [GRCh38] Chr8:140744421 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2431+6C>T	single nucleotide variant	not provided [RCV002609278]	Chr8:140252771 [GRCh38] Chr8:141262870 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2557-14_2557-13inv	inversion	not provided [RCV002608379]	Chr8:140024092..140024093 [GRCh38] Chr8:141034189..141034190 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1967C>T (p.Thr656Met)	single nucleotide variant	not provided [RCV002587652]	Chr8:140287622 [GRCh38] Chr8:141297721 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1855-12C>T	single nucleotide variant	not provided [RCV002588987]	Chr8:140287746 [GRCh38] Chr8:141297845 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2442T>C (p.Ser814=)	single nucleotide variant	not provided [RCV002608521]	Chr8:140221573 [GRCh38] Chr8:141231672 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2690C>A (p.Pro897Gln)	single nucleotide variant	Inborn genetic diseases [RCV002944804]	Chr8:140023946 [GRCh38] Chr8:141034043 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2965-16C>T	single nucleotide variant	not provided [RCV002608609]	Chr8:139885985 [GRCh38] Chr8:140898229 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-103G>A	single nucleotide variant	not provided [RCV002589591]	Chr8:140458373 [GRCh38] Chr8:141468472 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3098C>T (p.Ala1033Val)	single nucleotide variant	not provided [RCV003069521]	Chr8:139732160 [GRCh38] Chr8:140744403 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1736A>C (p.His579Pro)	single nucleotide variant	TRAPPC9-related disorder [RCV003898498]\|not provided [RCV002721826]	Chr8:140300501 [GRCh38] Chr8:141310600 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1926G>A (p.Leu642=)	single nucleotide variant	not provided [RCV002606081]	Chr8:140287663 [GRCh38] Chr8:141297762 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2947G>A (p.Gly983Ser)	single nucleotide variant	not provided [RCV002586379]	Chr8:139910164 [GRCh38] Chr8:140922408 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.444C>T (p.Ile148=)	single nucleotide variant	not provided [RCV002609049]	Chr8:140450930 [GRCh38] Chr8:141461029 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2700-5C>T	single nucleotide variant	not provided [RCV002610993]	Chr8:139988841 [GRCh38] Chr8:140999049 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.-10-2A>G	single nucleotide variant	not provided [RCV002613351]	Chr8:140451385 [GRCh38] Chr8:141461484 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.1204C>T (p.Arg402Cys)	single nucleotide variant	not provided [RCV002589100]	Chr8:140371111 [GRCh38] Chr8:141381210 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.385C>T (p.Arg129Cys)	single nucleotide variant	not provided [RCV003093080]	Chr8:140450989 [GRCh38] Chr8:141461088 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1995G>A (p.Thr665=)	single nucleotide variant	not provided [RCV002611879]	Chr8:140284008 [GRCh38] Chr8:141294107 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2457C>T (p.Pro819=)	single nucleotide variant	not provided [RCV002611956]	Chr8:140221558 [GRCh38] Chr8:141231657 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.393C>T (p.Asp131=)	single nucleotide variant	not provided [RCV002611989]	Chr8:140450981 [GRCh38] Chr8:141461080 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.584+20C>G	single nucleotide variant	not provided [RCV002635615]	Chr8:140450770 [GRCh38] Chr8:141460869 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2657C>T (p.Pro886Leu)	single nucleotide variant	not provided [RCV002587817]	Chr8:140023979 [GRCh38] Chr8:141034076 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3214G>A (p.Val1072Met)	single nucleotide variant	Inborn genetic diseases [RCV004071616]\|not provided [RCV003068935]\|not specified [RCV004783002]	Chr8:139732044 [GRCh38] Chr8:140744287 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1959G>T (p.Thr653=)	single nucleotide variant	not provided [RCV003069114]	Chr8:140287630 [GRCh38] Chr8:141297729 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	copy number gain	Distal trisomy 8q [RCV003325441]	Chr8:131138343..143473913 [GRCh37] Chr8:8q24.21-24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2283A>C (p.Lys761Asn)	single nucleotide variant	Inborn genetic diseases [RCV003295848]	Chr8:140252925 [GRCh38] Chr8:141263024 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2675G>C (p.Arg892Pro)	single nucleotide variant	Inborn genetic diseases [RCV003198983]	Chr8:140023961 [GRCh38] Chr8:141034058 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2123del (p.His708fs)	deletion	Intellectual disability, autosomal recessive 13 [RCV003223456]	Chr8:140275813 [GRCh38] Chr8:141285912 [GRCh37] Chr8:8q24.3	not provided
NM_031466.8(TRAPPC9):c.-282G>A	single nucleotide variant	not provided [RCV003159497]	Chr8:140458552 [GRCh38] Chr8:141468651 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.289G>A (p.Glu97Lys)	single nucleotide variant	not provided [RCV003229162]	Chr8:140451085 [GRCh38] Chr8:141461184 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1623-1G>A	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003226044]	Chr8:140300615 [GRCh38] Chr8:141310714 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.2557-73221G>A	single nucleotide variant	not provided [RCV003223290]	Chr8:140097300 [GRCh38] Chr8:141107399 [GRCh37] Chr8:8q24.3	benign
NM_001160372.4(TRAPPC9):c.2761A>C (p.Ser921Arg)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003142759]	Chr8:139988775 [GRCh38] Chr8:140998983 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2067A>T (p.Glu689Asp)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003142760]	Chr8:140283936 [GRCh38] Chr8:141294035 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.124A>G (p.Ser42Gly)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003142761]	Chr8:140451250 [GRCh38] Chr8:141461349 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.838G>A (p.Ala280Thr)	single nucleotide variant	Inborn genetic diseases [RCV003213063]	Chr8:140435133 [GRCh38] Chr8:141445232 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.431_446del (p.Val144fs)	deletion	Intellectual disability, autosomal recessive 13 [RCV003226103]	Chr8:140450928..140450943 [GRCh38] Chr8:141461027..141461042 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)	duplication	Intellectual disability, autosomal recessive 13 [RCV003226102]	Chr8:139910295..139910296 [GRCh38] Chr8:140922539..140922540 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.560T>C (p.Phe187Ser)	single nucleotide variant	not provided [RCV003323168]	Chr8:140450814 [GRCh38] Chr8:141460913 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.-11+6T>G	single nucleotide variant	not provided [RCV003329067]	Chr8:140457633 [GRCh38] Chr8:141467732 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2557-75059C>G	single nucleotide variant	not provided [RCV003327206]	Chr8:140099138 [GRCh38] Chr8:141109237 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003336627]	Chr8:140275763 [GRCh38] Chr8:141285862 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.799G>A (p.Gly267Arg)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003336628]	Chr8:140435172 [GRCh38] Chr8:141445271 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1538A>G (p.Lys513Arg)	single nucleotide variant	Inborn genetic diseases [RCV003384838]	Chr8:140311332 [GRCh38] Chr8:141321431 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2020T>A (p.Leu674Met)	single nucleotide variant	Inborn genetic diseases [RCV003366870]	Chr8:140283983 [GRCh38] Chr8:141294082 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.101T>G (p.Ile34Ser)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003333305]	Chr8:140451273 [GRCh38] Chr8:141461372 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1226G>A (p.Arg409His)	single nucleotide variant	Inborn genetic diseases [RCV003355135]	Chr8:140371089 [GRCh38] Chr8:141381188 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.604del (p.Gln202fs)	deletion	not provided [RCV003571212]	Chr8:140439178 [GRCh38] Chr8:141449277 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.1758C>A (p.Asn586Lys)	single nucleotide variant	Inborn genetic diseases [RCV004676318]\|not provided [RCV003875543]	Chr8:140300479 [GRCh38] Chr8:141310578 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.860-16C>G	single nucleotide variant	not provided [RCV003570299]	Chr8:140426657 [GRCh38] Chr8:141436756 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-110_-103dup	duplication	not provided [RCV003695595]	Chr8:140458372..140458373 [GRCh38] Chr8:141468471..141468472 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.933C>T (p.Ile311=)	single nucleotide variant	not provided [RCV003874264]	Chr8:140405652 [GRCh38] Chr8:141415751 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-238T>C	single nucleotide variant	not provided [RCV003699571]	Chr8:140458508 [GRCh38] Chr8:141468607 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.842C>T (p.Ala281Val)	single nucleotide variant	not provided [RCV003826333]	Chr8:140435129 [GRCh38] Chr8:141445228 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:141286570-141517458)x3	copy number gain	not provided [RCV003484751]	Chr8:141286570..141517458 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	copy number gain	not provided [RCV003484752]	Chr8:141419599..146295771 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2557-70820G>A	single nucleotide variant	not provided [RCV003440682]	Chr8:140094899 [GRCh38] Chr8:141104998 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2557-71762G>A	single nucleotide variant	not provided [RCV003440683]	Chr8:140095841 [GRCh38] Chr8:141105940 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.81C>T (p.Ser27=)	single nucleotide variant	not provided [RCV003440684]	Chr8:140451293 [GRCh38] Chr8:141461392 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1403T>G (p.Val468Gly)	single nucleotide variant	not provided [RCV003441284]	Chr8:140360142 [GRCh38] Chr8:141370241 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2912G>A (p.Arg971Gln)	single nucleotide variant	not provided [RCV003440681]	Chr8:139910199 [GRCh38] Chr8:140922443 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2186del (p.Gly729fs)	deletion	Intellectual disability, autosomal recessive 13 [RCV003405213]	Chr8:140275750 [GRCh38] Chr8:141285849 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2305T>C (p.Trp769Arg)	single nucleotide variant	TRAPPC9-related disorder [RCV003414319]	Chr8:140252903 [GRCh38] Chr8:141263002 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3351C>T (p.His1117=)	single nucleotide variant	not provided [RCV003576650]	Chr8:139731157 [GRCh38] Chr8:140743400 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1807C>T (p.Leu603=)	single nucleotide variant	not provided [RCV003715310]	Chr8:140291040 [GRCh38] Chr8:141301139 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1281C>G (p.Ala427=)	single nucleotide variant	not provided [RCV003663479]	Chr8:140371034 [GRCh38] Chr8:141381133 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.3347T>C (p.Leu1116Pro)	single nucleotide variant	not provided [RCV003573341]	Chr8:139731161 [GRCh38] Chr8:140743404 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.585-11G>A	single nucleotide variant	not provided [RCV003828257]	Chr8:140439208 [GRCh38] Chr8:141449307 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1530T>C (p.Tyr510=)	single nucleotide variant	not provided [RCV003826863]	Chr8:140311340 [GRCh38] Chr8:141321439 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.886+12A>G	single nucleotide variant	not provided [RCV003691287]	Chr8:140426603 [GRCh38] Chr8:141436702 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2641C>T (p.His881Tyr)	single nucleotide variant	not provided [RCV003694586]	Chr8:140023995 [GRCh38] Chr8:141034092 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.1412C>T (p.Ser471Phe)	single nucleotide variant	not provided [RCV003573342]	Chr8:140360133 [GRCh38] Chr8:141370232 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3127C>T (p.Leu1043=)	single nucleotide variant	not provided [RCV003543881]	Chr8:139732131 [GRCh38] Chr8:140744374 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2841dup (p.Glu948Ter)	duplication	Intellectual disability, autosomal recessive 13 [RCV004690449]\|not provided [RCV003661642]	Chr8:139910269..139910270 [GRCh38] Chr8:140922513..140922514 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.1113A>C (p.Ala371=)	single nucleotide variant	not provided [RCV003713533]	Chr8:140397641 [GRCh38] Chr8:141407740 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2598G>A (p.Pro866=)	single nucleotide variant	not provided [RCV003738906]	Chr8:140024038 [GRCh38] Chr8:141034135 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.584+10C>T	single nucleotide variant	not provided [RCV003715825]	Chr8:140450780 [GRCh38] Chr8:141460879 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2194C>T (p.Gln732Ter)	single nucleotide variant	not provided [RCV003826958]	Chr8:140275742 [GRCh38] Chr8:141285841 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.1009-6del	deletion	not provided [RCV003547141]	Chr8:140397751 [GRCh38] Chr8:141407850 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.730+16G>A	single nucleotide variant	not provided [RCV003689792]	Chr8:140439036 [GRCh38] Chr8:141449135 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1575C>A (p.Gly525=)	single nucleotide variant	not provided [RCV003827680]	Chr8:140311295 [GRCh38] Chr8:141321394 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1135-16dup	duplication	not provided [RCV003660498]	Chr8:140371195..140371196 [GRCh38] Chr8:141381294..141381295 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.11C>G (p.Pro4Arg)	single nucleotide variant	not provided [RCV003716177]	Chr8:140451363 [GRCh38] Chr8:141461462 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-204C>G	single nucleotide variant	not provided [RCV003849928]	Chr8:140458474 [GRCh38] Chr8:141468573 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3042G>A (p.Ala1014=)	single nucleotide variant	not provided [RCV003850107]	Chr8:139885892 [GRCh38] Chr8:140898136 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1941C>T (p.Leu647=)	single nucleotide variant	not provided [RCV003659365]	Chr8:140287648 [GRCh38] Chr8:141297747 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2121A>G (p.Ala707=)	single nucleotide variant	not provided [RCV003834579]	Chr8:140275815 [GRCh38] Chr8:141285914 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.825C>G (p.Thr275=)	single nucleotide variant	not provided [RCV003852088]	Chr8:140435146 [GRCh38] Chr8:141445245 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2699+13C>T	single nucleotide variant	not provided [RCV003856647]	Chr8:140023924 [GRCh38] Chr8:141034021 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.237C>A (p.Gly79=)	single nucleotide variant	not provided [RCV003839417]	Chr8:140451137 [GRCh38] Chr8:141461236 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1911G>C (p.Pro637=)	single nucleotide variant	not provided [RCV003817076]	Chr8:140287678 [GRCh38] Chr8:141297777 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1137T>C (p.Leu379=)	single nucleotide variant	not provided [RCV003725476]	Chr8:140371178 [GRCh38] Chr8:141381277 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1622+10G>A	single nucleotide variant	not provided [RCV003838099]	Chr8:140311238 [GRCh38] Chr8:141321337 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2700-12T>C	single nucleotide variant	not provided [RCV003856051]	Chr8:139988848 [GRCh38] Chr8:140999056 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.51C>T (p.Leu17=)	single nucleotide variant	not provided [RCV003835493]	Chr8:140451323 [GRCh38] Chr8:141461422 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2114+12G>A	single nucleotide variant	not provided [RCV003814906]	Chr8:140283877 [GRCh38] Chr8:141293976 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1768+1G>A	single nucleotide variant	not provided [RCV003724580]	Chr8:140300468 [GRCh38] Chr8:141310567 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.3051G>A (p.Gln1017=)	single nucleotide variant	TRAPPC9-related disorder [RCV003909176]\|not provided [RCV003835202]	Chr8:139885883 [GRCh38] Chr8:140898127 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.731-2A>C	single nucleotide variant	not provided [RCV003560535]	Chr8:140435242 [GRCh38] Chr8:141445341 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.2397C>T (p.Ser799=)	single nucleotide variant	not provided [RCV003819346]	Chr8:140252811 [GRCh38] Chr8:141262910 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2632C>T (p.Leu878=)	single nucleotide variant	not provided [RCV003563511]	Chr8:140024004 [GRCh38] Chr8:141034101 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2018del (p.Cys673fs)	deletion	not provided [RCV003564524]	Chr8:140283985 [GRCh38] Chr8:141294084 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2082G>A (p.Leu694=)	single nucleotide variant	not provided [RCV003728110]	Chr8:140283921 [GRCh38] Chr8:141294020 [GRCh37] Chr8:8q24.3	likely benign
NM_031466.8(TRAPPC9):c.-100C>T	single nucleotide variant	not provided [RCV003841109]	Chr8:140458370 [GRCh38] Chr8:141468469 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1176C>T (p.Ser392=)	single nucleotide variant	not provided [RCV003858652]	Chr8:140371139 [GRCh38] Chr8:141381238 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.585-20C>A	single nucleotide variant	not provided [RCV003842619]	Chr8:140439217 [GRCh38] Chr8:141449316 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1884G>A (p.Glu628=)	single nucleotide variant	not provided [RCV003861413]	Chr8:140287705 [GRCh38] Chr8:141297804 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.886+7G>T	single nucleotide variant	not provided [RCV003553808]	Chr8:140426608 [GRCh38] Chr8:141436707 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2964+12C>T	single nucleotide variant	not provided [RCV003824258]	Chr8:139910135 [GRCh38] Chr8:140922379 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2965-11C>G	single nucleotide variant	not provided [RCV003678107]	Chr8:139885980 [GRCh38] Chr8:140898224 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1608G>A (p.Lys536=)	single nucleotide variant	not provided [RCV003848152]	Chr8:140311262 [GRCh38] Chr8:141321361 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1299G>T (p.Leu433=)	single nucleotide variant	not provided [RCV003568419]	Chr8:140371016 [GRCh38] Chr8:141381115 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1623-15T>C	single nucleotide variant	not provided [RCV003858004]	Chr8:140300629 [GRCh38] Chr8:141310728 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.456C>G (p.Ile152Met)	single nucleotide variant	not provided [RCV003734397]	Chr8:140450918 [GRCh38] Chr8:141461017 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.231C>G (p.Val77=)	single nucleotide variant	not provided [RCV003868854]	Chr8:140451143 [GRCh38] Chr8:141461242 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2279-18T>C	single nucleotide variant	not provided [RCV003566496]	Chr8:140252947 [GRCh38] Chr8:141263046 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.465G>A (p.Leu155=)	single nucleotide variant	not provided [RCV003871385]	Chr8:140450909 [GRCh38] Chr8:141461008 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not specified [RCV003986742]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.429G>A (p.Thr143=)	single nucleotide variant	not provided [RCV003721691]	Chr8:140450945 [GRCh38] Chr8:141461044 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1353C>T (p.Gly451=)	single nucleotide variant	TRAPPC9-related disorder [RCV003909127]\|not provided [RCV003729122]	Chr8:140360192 [GRCh38] Chr8:141370291 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_001160372.4(TRAPPC9):c.2279-10A>G	single nucleotide variant	not provided [RCV003853250]	Chr8:140252939 [GRCh38] Chr8:141263038 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.168C>T (p.Arg56=)	single nucleotide variant	not provided [RCV003731610]	Chr8:140451206 [GRCh38] Chr8:141461305 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.57G>A (p.Val19=)	single nucleotide variant	not provided [RCV003868675]	Chr8:140451317 [GRCh38] Chr8:141461416 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1495+10C>T	single nucleotide variant	not provided [RCV003869936]	Chr8:140360040 [GRCh38] Chr8:141370139 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2431+17T>G	single nucleotide variant	not provided [RCV003564081]	Chr8:140252760 [GRCh38] Chr8:141262859 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2142T>C (p.Ser714=)	single nucleotide variant	not provided [RCV003860333]	Chr8:140275794 [GRCh38] Chr8:141285893 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1953G>A (p.Pro651=)	single nucleotide variant	not provided [RCV003729150]	Chr8:140287636 [GRCh38] Chr8:141297735 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1860G>A (p.Leu620=)	single nucleotide variant	not provided [RCV003679942]	Chr8:140287729 [GRCh38] Chr8:141297828 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2625T>C (p.Asn875=)	single nucleotide variant	not provided [RCV003676823]	Chr8:140024011 [GRCh38] Chr8:141034108 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1352-4G>T	single nucleotide variant	not provided [RCV003864305]	Chr8:140360197 [GRCh38] Chr8:141370296 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2556+13G>C	single nucleotide variant	not provided [RCV003677103]	Chr8:140221446 [GRCh38] Chr8:141231545 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.887-9G>T	single nucleotide variant	not provided [RCV003819937]	Chr8:140405707 [GRCh38] Chr8:141415806 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.81C>G (p.Ser27=)	single nucleotide variant	not provided [RCV003551658]	Chr8:140451293 [GRCh38] Chr8:141461392 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2739C>A (p.Ser913=)	single nucleotide variant	not provided [RCV003710830]	Chr8:139988797 [GRCh38] Chr8:140999005 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.129G>A (p.Gln43=)	single nucleotide variant	not provided [RCV003864690]	Chr8:140451245 [GRCh38] Chr8:141461344 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2259G>A (p.Ser753=)	single nucleotide variant	not provided [RCV003728936]	Chr8:140275677 [GRCh38] Chr8:141285776 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2278+14G>A	single nucleotide variant	not provided [RCV003677601]	Chr8:140275644 [GRCh38] Chr8:141285743 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2811-21985G>A	single nucleotide variant	not provided [RCV003885939]	Chr8:139932285 [GRCh38] Chr8:140944529 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.700C>T (p.Arg234Cys)	single nucleotide variant	Inborn genetic diseases [RCV004686808]\|Intellectual disability, autosomal recessive 13 [RCV003989159]	Chr8:140439082 [GRCh38] Chr8:141449181 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2074C>A (p.Pro692Thr)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003990509]	Chr8:140283929 [GRCh38] Chr8:141294028 [GRCh37] Chr8:8q24.3	uncertain significance
NM_031466.8(TRAPPC9):c.-157A>C	single nucleotide variant	TRAPPC9-related disorder [RCV003941989]	Chr8:140458427 [GRCh38] Chr8:141468526 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2664A>G (p.Val888=)	single nucleotide variant	TRAPPC9-related disorder [RCV003961860]	Chr8:140023972 [GRCh38] Chr8:141034069 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2811-21986T>C	single nucleotide variant	not provided [RCV003885940]	Chr8:139932286 [GRCh38] Chr8:140944530 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2811-22051C>T	single nucleotide variant	not provided [RCV003885941]	Chr8:139932351 [GRCh38] Chr8:140944595 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2811-22080T>A	single nucleotide variant	not provided [RCV003885942]	Chr8:139932380 [GRCh38] Chr8:140944624 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.1045del (p.Ile349fs)	deletion	TRAPPC9-related disorder [RCV003896290]	Chr8:140397709 [GRCh38] Chr8:141407808 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.252A>C (p.Thr84=)	single nucleotide variant	TRAPPC9-related disorder [RCV003904151]	Chr8:140451122 [GRCh38] Chr8:141461221 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.108G>A (p.Lys36=)	single nucleotide variant	TRAPPC9-related disorder [RCV003894664]	Chr8:140451266 [GRCh38] Chr8:141461365 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)	duplication	Intellectual disability, autosomal recessive 13 [RCV003988934]	Chr8:140221494..140221495 [GRCh38] Chr8:141231593..141231594 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2727T>C (p.Asp909=)	single nucleotide variant	TRAPPC9-related disorder [RCV003899015]	Chr8:139988809 [GRCh38] Chr8:140999017 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.203G>A (p.Trp68Ter)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV003988328]	Chr8:140451171 [GRCh38] Chr8:141461270 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	copy number gain	not provided [RCV003885521]	Chr8:113392581..146364022 [GRCh37] Chr8:8q23.3-24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2811-22128T>G	single nucleotide variant	not provided [RCV003885943]	Chr8:139932428 [GRCh38] Chr8:140944672 [GRCh37] Chr8:8q24.3	likely benign
NM_001160372.4(TRAPPC9):c.122_123del (p.Val41fs)	microsatellite	Intellectual disability, autosomal recessive 13 [RCV004577426]	Chr8:140451251..140451252 [GRCh38] Chr8:141461350..141461351 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.110G>T (p.Arg37Met)	single nucleotide variant	Inborn genetic diseases [RCV004473457]	Chr8:140451264 [GRCh38] Chr8:141461363 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.379C>G (p.Gln127Glu)	single nucleotide variant	Inborn genetic diseases [RCV004473459]	Chr8:140450995 [GRCh38] Chr8:141461094 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3250G>A (p.Val1084Met)	single nucleotide variant	Intellectual disability, autosomal recessive 13 [RCV004560506]	Chr8:139732008 [GRCh38] Chr8:140744251 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.866A>G (p.Gln289Arg)	single nucleotide variant	Inborn genetic diseases [RCV004473450]	Chr8:140426635 [GRCh38] Chr8:141436734 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2002G>A (p.Gly668Ser)	single nucleotide variant	Inborn genetic diseases [RCV004473451]	Chr8:140284001 [GRCh38] Chr8:141294100 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.23A>T (p.Gln8Leu)	single nucleotide variant	Inborn genetic diseases [RCV004473452]	Chr8:140451351 [GRCh38] Chr8:141461450 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3038T>C (p.Leu1013Pro)	single nucleotide variant	Inborn genetic diseases [RCV004473453]	Chr8:139885896 [GRCh38] Chr8:140898140 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3086G>A (p.Arg1029His)	single nucleotide variant	Inborn genetic diseases [RCV004473454]	Chr8:139732172 [GRCh38] Chr8:140744415 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3108G>C (p.Gln1036His)	single nucleotide variant	Inborn genetic diseases [RCV004473455]	Chr8:139732150 [GRCh38] Chr8:140744393 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2474G>A (p.Arg825Gln)	single nucleotide variant	not specified [RCV004689466]	Chr8:140221541 [GRCh38] Chr8:141231640 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3287C>T (p.Pro1096Leu)	single nucleotide variant	Inborn genetic diseases [RCV004677535]	Chr8:139731221 [GRCh38] Chr8:140743464 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.854G>A (p.Arg285Gln)	single nucleotide variant	Inborn genetic diseases [RCV004677536]	Chr8:140435117 [GRCh38] Chr8:141445216 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2167dup (p.Ser723fs)	duplication	Intellectual disability, autosomal recessive 13 [RCV004585208]	Chr8:140275768..140275769 [GRCh38] Chr8:141285867..141285868 [GRCh37] Chr8:8q24.3	pathogenic
NM_001160372.4(TRAPPC9):c.2768G>A (p.Arg923Lys)	single nucleotide variant	not specified [RCV004690800]	Chr8:139988768 [GRCh38] Chr8:140998976 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.3443C>A (p.Ala1148Asp)	single nucleotide variant	not specified [RCV004690801]	Chr8:139731065 [GRCh38] Chr8:140743308 [GRCh37] Chr8:8q24.3	uncertain significance
NC_000008.10:g.(?_140998914)_(141034196_?)del	deletion	not provided [RCV004583367]	Chr8:140998914..141034196 [GRCh37] Chr8:8q24.3	pathogenic
NC_000008.10:g.(?_141231538)_(141231702_?)dup	duplication	not provided [RCV004583368]	Chr8:141231538..141231702 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_001160372.4(TRAPPC9):c.1753C>T (p.Arg585Trp)	single nucleotide variant	TRAPPC9-related disorder [RCV004746999]	Chr8:140300484 [GRCh38] Chr8:141310583 [GRCh37] Chr8:8q24.3	uncertain significance
NM_001160372.4(TRAPPC9):c.2811-22188G>A	single nucleotide variant	not provided [RCV004722437]	Chr8:139932488 [GRCh38] Chr8:140944732 [GRCh37] Chr8:8q24.3	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	5487
Count of miRNA genes:	987
Interacting mature miRNAs:	1193
Transcripts:	ENST00000389327, ENST00000389328, ENST00000438773, ENST00000517667, ENST00000518723, ENST00000518839, ENST00000519482, ENST00000520532, ENST00000520857, ENST00000521167, ENST00000521667, ENST00000521700, ENST00000521944, ENST00000522504, ENST00000523777, ENST00000524162
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597133590	GWAS1229664_H	diastolic blood pressure QTL GWAS1229664 (human)		0.00001	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	8	139911438	139911439	Human
597051038	GWAS1147112_H	adipose tissue measurement QTL GWAS1147112 (human)		0.000008	adipose tissue measurement	body fat morphological measurement (CMO:0000089)	8	140137257	140137258	Human
406919626	GWAS568602_H	diastolic blood pressure QTL GWAS568602 (human)		2e-08	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	8	140035635	140035636	Human
407002193	GWAS651169_H	systolic blood pressure QTL GWAS651169 (human)		0.000009	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140049552	140049553	Human
597027329	GWAS1123403_H	systolic blood pressure QTL GWAS1123403 (human)		5e-08	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	139914359	139914360	Human
597038209	GWAS1134283_H	gut microbiome measurement QTL GWAS1134283 (human)		0.000008	gut microbiome measurement		8	139941930	139941931	Human
597272846	GWAS1368920_H	systolic blood pressure QTL GWAS1368920 (human)		9e-11	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140073283	140073284	Human
597134605	GWAS1230679_H	bone density QTL GWAS1230679 (human)		3e-08	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	8	139905040	139905041	Human
597064203	GWAS1160277_H	pulse pressure measurement QTL GWAS1160277 (human)		1e-08	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140045627	140045628	Human
597307834	GWAS1403908_H	pulse pressure measurement QTL GWAS1403908 (human)		3e-24	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140045627	140045628	Human
597529279	GWAS1625353_H	Ischemic stroke QTL GWAS1625353 (human)		0.000008	Ischemic stroke		8	139849397	139849398	Human
597422136	GWAS1518210_H	systolic blood pressure QTL GWAS1518210 (human)		1e-10	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140059033	140059034	Human
597239741	GWAS1335815_H	blood protein measurement QTL GWAS1335815 (human)		2e-14	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	8	140331596	140331597	Human
407384160	GWAS1033136_H	obsolete_red blood cell distribution width QTL GWAS1033136 (human)		6e-09	obsolete_red blood cell distribution width	red blood cell distribution width- standard deviation (CMO:0003232)	8	140448235	140448236	Human
407051119	GWAS700095_H	pack-years measurement, systolic blood pressure QTL GWAS700095 (human)		0.0000003	pack-years measurement, systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140394230	140394231	Human
597605811	GWAS1662671_H	Abnormality of the immune system QTL GWAS1662671 (human)		2e-11	Abnormality of the immune system		8	140366901	140366902	Human
407235063	GWAS884039_H	emphysema pattern measurement QTL GWAS884039 (human)		3e-08	emphysema pattern measurement		8	139983697	139983698	Human
597064226	GWAS1160300_H	pulse pressure measurement QTL GWAS1160300 (human)		2e-11	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140045627	140045628	Human
596984353	GWAS1103872_H	memory performance QTL GWAS1103872 (human)		0.000009	memory performance		8	140076228	140076229	Human
596958636	GWAS1078155_H	Red cell distribution width QTL GWAS1078155 (human)		6e-09	Red cell distribution width	red blood cell distribution width- standard deviation (CMO:0003232)	8	140448235	140448236	Human
597321380	GWAS1417454_H	educational attainment QTL GWAS1417454 (human)		0.000002	educational attainment		8	140050144	140050145	Human
597227942	GWAS1324016_H	protein measurement QTL GWAS1324016 (human)		2e-08	protein measurement		8	140351024	140351025	Human
407043965	GWAS692941_H	urinary nitrogen measurement QTL GWAS692941 (human)		0.000003	urinary nitrogen measurement		8	139985033	139985034	Human
597322330	GWAS1418404_H	systolic blood pressure QTL GWAS1418404 (human)		2e-09	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140109052	140109053	Human
597250650	GWAS1346724_H	pulse pressure measurement QTL GWAS1346724 (human)		0.000006	pulse pressure measurement	pulse pressure (CMO:0000292)	8	139903448	139903449	Human
597163860	GWAS1259934_H	lipid measurement QTL GWAS1259934 (human)		0.000003	lipid measurement	blood lipid measurement (CMO:0000050)	8	140086108	140086109	Human
597313373	GWAS1409447_H	vaginal microbiome measurement QTL GWAS1409447 (human)		0.00001	vaginal microbiome measurement		8	140140070	140140071	Human
597132765	GWAS1228839_H	pulse pressure measurement QTL GWAS1228839 (human)		6e-16	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140115977	140115978	Human
597098076	GWAS1194150_H	interleukin-6 measurement QTL GWAS1194150 (human)		3e-08	interleukin-6 measurement	blood interleukin-6 level (CMO:0001926)	8	140416041	140416042	Human
597132764	GWAS1228838_H	pulse pressure measurement QTL GWAS1228838 (human)		1e-33	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140047544	140047545	Human
596968542	GWAS1088061_H	systolic blood pressure QTL GWAS1088061 (human)		2e-09	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140109052	140109053	Human
597132763	GWAS1228837_H	pulse pressure measurement QTL GWAS1228837 (human)		0.000008	pulse pressure measurement	pulse pressure (CMO:0000292)	8	139911438	139911439	Human
597132762	GWAS1228836_H	pulse pressure measurement QTL GWAS1228836 (human)		1e-11	pulse pressure measurement	pulse pressure (CMO:0000292)	8	139784896	139784897	Human
597032408	GWAS1128482_H	pulse pressure measurement QTL GWAS1128482 (human)		1e-13	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140050649	140050650	Human
597133146	GWAS1229220_H	memory performance QTL GWAS1229220 (human)		0.000009	memory performance		8	140076228	140076229	Human
597304277	GWAS1400351_H	carotid artery intima media thickness QTL GWAS1400351 (human)		0.000003	carotid artery intima media thickness		8	140131722	140131723	Human
597321547	GWAS1417621_H	X-12798 measurement QTL GWAS1417621 (human)		0.0000008	X-12798 measurement		8	140110989	140110990	Human
407123094	GWAS772070_H	mean corpuscular hemoglobin QTL GWAS772070 (human)		5e-10	mean corpuscular hemoglobin	mean corpuscular hemoglobin (CMO:0000290)	8	140448235	140448236	Human
597066821	GWAS1162895_H	non-alcoholic fatty liver disease severity measurement QTL GWAS1162895 (human)		0.0000009	non-alcoholic fatty liver disease severity measurement	liver disease severity measurement (CMO:0002155)	8	139784177	139784178	Human
597061957	GWAS1158031_H	BMI-adjusted hip circumference QTL GWAS1158031 (human)		0.000008	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	8	140044771	140044772	Human
597334735	GWAS1430809_H	COVID-19 QTL GWAS1430809 (human)		0.000005	COVID-19		8	140336194	140336195	Human
597309132	GWAS1405206_H	systolic blood pressure QTL GWAS1405206 (human)		6e-11	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	139911438	139911439	Human
597616840	GWAS1673700_H	malunion fracture QTL GWAS1673700 (human)		4e-12	malunion fracture		8	140380803	140380804	Human
597046849	GWAS1142923_H	Red cell distribution width QTL GWAS1142923 (human)		6e-09	Red cell distribution width	red blood cell distribution width- standard deviation (CMO:0003232)	8	140448235	140448236	Human
406957081	GWAS606057_H	response to xenobiotic stimulus QTL GWAS606057 (human)		0.000007	response to xenobiotic stimulus		8	140140070	140140071	Human
597193409	GWAS1289483_H	systolic blood pressure QTL GWAS1289483 (human)		4e-08	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	139911438	139911439	Human
597193410	GWAS1289484_H	systolic blood pressure QTL GWAS1289484 (human)		3e-11	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140047544	140047545	Human
597074764	GWAS1170838_H	age-related macular degeneration, disease progression measurement QTL GWAS1170838 (human)		0.000006	age-related macular degeneration, disease progression measurement	disease progression measurement (CMO:0001110)	8	140166230	140166231	Human
597333313	GWAS1429387_H	R-6-hydroxywarfarin measurement QTL GWAS1429387 (human)		2e-08	R-6-hydroxywarfarin measurement		8	139970003	139970004	Human
597511238	GWAS1607312_H	diastolic blood pressure, systolic blood pressure QTL GWAS1607312 (human)		0.0000004	diastolic blood pressure, systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140095675	140095676	Human
597193411	GWAS1289485_H	systolic blood pressure QTL GWAS1289485 (human)		2e-08	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140115977	140115978	Human
407001757	GWAS650733_H	pulse pressure measurement QTL GWAS650733 (human)		2e-10	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140049552	140049553	Human
597132919	GWAS1228993_H	systolic blood pressure QTL GWAS1228993 (human)		1e-08	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	139784896	139784897	Human
596964215	GWAS1083734_H	major depressive disorder QTL GWAS1083734 (human)		0.000002	major depressive disorder		8	140119737	140119738	Human
597332093	GWAS1428167_H	RS-6-hydroxywarfarin measurement QTL GWAS1428167 (human)		0.0000003	RS-6-hydroxywarfarin measurement		8	139970003	139970004	Human
597054974	GWAS1151048_H	systolic blood pressure QTL GWAS1151048 (human)		9e-09	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	139784896	139784897	Human
597054975	GWAS1151049_H	systolic blood pressure QTL GWAS1151049 (human)		3e-13	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140109052	140109053	Human
407082284	GWAS731260_H	unipolar depression QTL GWAS731260 (human)		0.000002	unipolar depression		8	140119737	140119738	Human
597505772	GWAS1601846_H	diastolic blood pressure, systolic blood pressure QTL GWAS1601846 (human)		4e-08	diastolic blood pressure, systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140095675	140095676	Human
597105381	GWAS1201455_H	pallidum volume change measurement QTL GWAS1201455 (human)		0.0000007	pallidum volume change measurement		8	139911832	139911833	Human
597149541	GWAS1245615_H	systolic blood pressure QTL GWAS1245615 (human)		1e-08	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	140067433	140067434	Human
597270881	GWAS1366955_H	pulse pressure measurement QTL GWAS1366955 (human)		5e-21	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140047544	140047545	Human
407003834	GWAS652810_H	pulse pressure measurement QTL GWAS652810 (human)		0.000003	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140049552	140049553	Human
597144047	GWAS1240121_H	response to methotrexate, serum alanine aminotransferase measurement QTL GWAS1240121 (human)		0.000002	response to methotrexate, serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	8	140066579	140066580	Human
407003835	GWAS652811_H	pulse pressure measurement QTL GWAS652811 (human)		0.0000003	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140049552	140049553	Human
597074799	GWAS1170873_H	major depressive disorder QTL GWAS1170873 (human)		0.000002	major depressive disorder		8	140119737	140119738	Human
597401953	GWAS1498027_H	diastolic blood pressure, systolic blood pressure QTL GWAS1498027 (human)		0.000008	diastolic blood pressure, systolic blood pressure	systolic blood pressure (CMO:0000004)	8	139904552	139904553	Human
406959803	GWAS608779_H	pulse pressure measurement QTL GWAS608779 (human)		5e-16	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140049929	140049930	Human
597161453	GWAS1257527_H	lipid measurement QTL GWAS1257527 (human)		0.000005	lipid measurement	blood lipid measurement (CMO:0000050)	8	140086108	140086109	Human
597582050	GWAS1638910_H	pulse pressure measurement QTL GWAS1638910 (human)		8e-19	pulse pressure measurement	pulse pressure (CMO:0000292)	8	140045627	140045628	Human
597026536	GWAS1122610_H	pars opercularis volume measurement QTL GWAS1122610 (human)		0.000004	frontal lobe morphology trait (VT:0000798)		8	140118258	140118259	Human
597348453	GWAS1444527_H	bile duct cancer QTL GWAS1444527 (human)		4e-08	bile duct cancer		8	139850611	139850612	Human

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2434	2788	2245	4951	1725	2346	4	622	1948	464	2268	7282	6454	52	3716	847	1732	1613	171

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_016478	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001160372	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321646	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374683	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_031466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_164662	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011517326	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011517328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011517330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017013893	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017013894	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047422294	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047422295	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047422296	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047422297	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047422298	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047422299	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361329	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361331	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361333	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361335	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_928355	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA863329	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB067469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC007869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC021636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC021744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC040978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC091022	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC104244	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC115836	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026394	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK027689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308815	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833973	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY190606	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY630619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC003650	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006206	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP394939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA228705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA778234	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA782470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458874	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458876	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458877	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF510304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF510305	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF510307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	R49592	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000389328 ⟹ ENSP00000373979

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,730,343 - 140,458,579 (-)	Ensembl

Ensembl Acc Id:

ENST00000438773 ⟹ ENSP00000405060

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,727,725 - 140,457,744 (-)	Ensembl

Ensembl Acc Id:

ENST00000517667

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,988,740 - 140,238,493 (-)	Ensembl

Ensembl Acc Id:

ENST00000518723

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,904,432 - 139,908,695 (-)	Ensembl

Ensembl Acc Id:

ENST00000518839

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	140,215,910 - 140,262,730 (-)	Ensembl

Ensembl Acc Id:

ENST00000519482

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,731,044 - 139,908,758 (-)	Ensembl

Ensembl Acc Id:

ENST00000520532

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,988,823 - 140,262,731 (-)	Ensembl

Ensembl Acc Id:

ENST00000520857 ⟹ ENSP00000430116

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,730,345 - 140,450,930 (-)	Ensembl

Ensembl Acc Id:

ENST00000521167

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	140,283,987 - 140,302,835 (-)	Ensembl

Ensembl Acc Id:

ENST00000521667

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,730,892 - 140,291,251 (-)	Ensembl

Ensembl Acc Id:

ENST00000521700

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,731,006 - 139,806,233 (-)	Ensembl

Ensembl Acc Id:

ENST00000521944

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	140,405,293 - 140,435,197 (-)	Ensembl

Ensembl Acc Id:

ENST00000522504

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,730,996 - 139,881,295 (-)	Ensembl

Ensembl Acc Id:

ENST00000523777

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,732,162 - 140,082,153 (-)	Ensembl

Ensembl Acc Id:

ENST00000524162

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,732,093 - 140,008,591 (-)	Ensembl

Ensembl Acc Id:

ENST00000634178 ⟹ ENSP00000488007

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	140,252,571 - 140,275,753 (-)	Ensembl

Ensembl Acc Id:

ENST00000648948 ⟹ ENSP00000498020

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	139,727,725 - 140,458,579 (-)	Ensembl

RefSeq Acc Id:

NM_001160372 ⟹ NP_001153844

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,727,725 - 140,457,744 (-)	NCBI
GRCh37	8	140,740,324 - 141,468,678 (-)	NCBI
Celera	8	136,910,795 - 137,637,626 (-)	RGD
HuRef	8	136,053,781 - 136,779,850 (-)	RGD
CHM1_1	8	140,780,169 - 141,508,432 (-)	NCBI
T2T-CHM13v2.0	8	140,847,842 - 141,577,907 (-)	NCBI

Sequence:

show sequence

AGTAGGAAGCGCCAGCCCAGAGCCTGGGAAGTGGCCGCAGAGGCTGCTCGGCCCCGCTGCCCGC
CAGGTCGTGGGCTCCCGCTCCGGGCCCGGGGCCACCGGCTGTGGACTTCAAAATGAGCGTCCCT
GACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATCG
TCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGCG
GGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTGG
GGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCCA
AGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGTA
TGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGTG
GCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAGT
CACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGAT
CCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACAT
TACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGGA
TGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACTT
TCTGTGGCTTGGAGCTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGGT
GGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCCA
ATAGACACCGGCCAGGGGCACAGGAAGTTCTCATTGATCCAGGTGCCCTCACCACCAATGGCAT
CAACCCTGACACCAGTACTGAGATCGGACGTGCTAAGAACTGCCTTAGCCCTGAAGACATAATT
GACAAGTATAAAGAGGCGATTTCCTATTACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTGG
AAGCGTGCATCAAGGCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAATT
TCTTCAGAATGCAGTTTACATTAACCTTCGACAGCTTTCTGAGGAAGAGAAAATTCAGCGCTAC
AGCATCCTCTCCGAGCTCTATGAGCTGATCGGCTTCCATCGCAAGTCTGCGTTCTTCAAGCGCG
TGGCCGCCATGCAGTGCGTGGCCCCAAGCATCGCGGAGCCTGGGTGGAGGGCCTGCTACAAACT
CCTCCTGGAAACGCTGCCCGGCTACAGTCTGTCGCTGGATCCCAAAGATTTCAGCAGAGGCACG
CACAGAGGCTGGGCTGCGGTCCAGATGCGTTTGCTCCATGAATTGGTCTACGCCTCCCGAAGGA
TGGGGAACCCTGCCCTCTCTGTCAGACACCTGTCCTTCCTTCTACAGACCATGCTGGACTTCTT
GTCGGATCAGGAAAAGAAAGATGTGGCCCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGGG
ACCATGGAGCCCATCGCCCTCCCTGGCGGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTTC
CCATCGTCAGGCATGTGAAACTATTGAACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAAG
CTTGCTGGGTCAGAACGTGTCAACCAAAAGTCCTTTCATCTATTCACCAATTATCGCACACAAC
CGTGGAGAAGAGCGGAACAAGAAAATAGATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTTC
AGCTGATGGTATATAACCCAATGCCGTTTGAACTTCGAGTTGAAAACATGGGGCTGCTCACCAG
CGGAGTGGAGTTCGAGTCTCTCCCTGCGGCGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCCA
GTGACGCTCGTCGGGGTCCCGCAGACGACTGGAACGATTACTGTGAACGGTTACCATACCACGG
TCTTCGGTGTGTTCAGTGACTGTTTGCTGGATAACCTGCCGGGAATAAAAACCAGTGGCTCCAC
AGTGGAAGTCATTCCCGCGTTGCCAAGACTGCAGATCAGCACCTCTCTGCCCAGATCTGCACAT
TCATTGCAACCTTCTTCTGGTGATGAAATATCTACTAATGTATCTGTCCAGCTTTACAATGGAG
AAAGTCAGCAACTAATCATTAAATTGGAAAATATTGGAATGGAACCATTGGAGAAACTGGAGGT
CACCTCGAAAGTTCTCACCACTAAAGAAAAATTGTATGGCGACTTCTTGAGCTGGAAGCTAGAG
GAAACCCTTGCCCAGTTCCCTTTGCAGCCTGGGAAGGTGGCCACGTTCACAATCAACATCAAAG
TGAAGCTGGATTTCTCCTGCCAGGAGAATCTCCTGCAGGATCTCAGTGATGATGGAATCAGTGT
GAGTGGCTTTCCCCTGTCCAGTCCTTTTCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACCT
GTGAACCCACCCGAGAGCAACAAAGCAGGCGACTACAGCCACGTGAAGACCCTGGAAGCTGTCC
TGAATTTCAAATACTCTGGAGGCCCGGGCCACACTGAAGGATATTACAGGAATCTCTCCCTGGG
GCTGCATGTAGAAGTCGAGCCGTCTGTATTTTTCACCCGAGTCAGCACCCTCCCAGCAACCAGT
ACCCGGCAGTGTCACCTGCTCCTGGATGTCTTCAACTCCACCGAGCATGAGCTGACCGTCAGCA
CCAGGAGCAGCGAGGCACTCATCCTGCACGCCGGTGAGTGCCAGCGAATGGCTATTCAAGTGGA
CAAGTTCAACTTTGAGAGTTTCCCGGAGTCCCCTGGGGAGAAGGGGCAATTTGCAAACCCCAAG
CAGCTGGAGGAAGAGCGGCGGGAAGCCCGAGGCCTGGAGATCCACAGCAAGCTGGGCATCTGCT
GGAGAATCCCCTCCCTGAAGCGCAGTGGCGAGGCGAGTGTGGAAGGACTCCTGAACCAGCTCGT
CCTGGAGCACCTGCAGCTGGCGCCTCTGCAGTGGGATGTGCTGGTGGACGGACAGCCATGTGAC
CGCGAGGCTGTGGCGGCCTGCCAGGTGGGCGACCCCGTGCGCCTGGAGGTGCGGCTGACCAACC
GGAGCCCGCGCAGCGTAGGGCCCTTCGCCCTCACTGTGGTCCCCTTCCAGGACCACCAGAACGG
CGTGCACAACTACGACCTGCACGACACCGTCTCCTTCGTGGGCTCCAGCACCTTCTACCTCGAC
GCGGTGCAGCCGTCCGGCCAGTCGGCCTGCCTCGGGGCCCTCCTCTTCCTCTACACGGGAGACT
TCTTCCTCCACATCCGGTTCCACGAGGACAGCACCAGCAAGGAGCTGCCACCCTCTTGGTTCTG
CCTGCCCAGTGTGCACGTGTGTGCCCTGGAGGCGCAGGCCTGAGCCCGCCTACTTCCGTCCCTC
TTTCTGCAGGGCCAGAGGTGACCCTGCCTGGCCTCCCACACCCCCTGCAATGAGCAAGGCCTTC
ACTGCAGCCCCATCTCCTCCTCCTCCCCCAGACCCCTCCCAGCCCTCTCCTCCTGTTCCTCCTG
TAGCATCTTTGCTGGGCTACGCAGAAGCCCCGGACATGGCAGCCCCACCCCATGCCACGCCCCT
TCCTACACTGTTCCCTGGACCATACACAGGCTGAAGCAGAGGAAATCCCAAAGCGGGTGCCCAT
CCAGCCCAGGTCCCAGGATCCCTGCACCCATTTCTGTGACCTGGGGCCCCAGCCGTGCTGTGCT
GCTCATCCCAGCAGAGGGACCTCCCTCGTCCAGCGACTTCCCTTTGGCCATAGAAAGAAATGGT
GAGCATGAGACTGGGCACAGCCTGAGGGCGTGGGCAGCTTCCCACCCTCCCTGGGCCTTGGAAT
CCCCCAAGGCTGGTTTTCTTCCTGGAGACCCCCATGGGCAACTTGGCAGGAGAGATGGTGCCGT
AGGAGGTCGTGGATGGTTGATGCCAAGAGAGGCCCTCCACCCGTGGTGGGCAAATGTCCAGGCC
TGGGCTGGCAGCCCAGGGCTGTTTCTGGGTGCTCCCTGGCCCCAGGGTGGCGTCTGGTTACCAT
GGCTGTGTGTGTCCATGTCTGCAAGCAGTTCTTCAATAAATGGCCTGCCTCCCCCTCCCTGCCT
CCCTGCATCTGCTAGCCCAGTGCAGTCCGGGGCCCCCACCCAGCCCGTCAGCCCCCACCTCAGG
TGGCTGGCTTCCCAGCAGAAGCCGGACCCAGGAAGGGACGGGTTCTGAGTTAGAGATCTCACAT
AAGCAAACGCTGAGACAGGAATCTGGTCACCAGCAGCTTGTCTGGGAGGTGGAAGGAGGCCTGC
AGGGGAGGGAGATCACCAGTGAAGGAGTGTGACTGGGCCCGAGCTGCCGCCACAGTGGGCAGCT
GGCCCTGCGTTCCTCAGGGAGGACCGGAGAGAGAAAGCACACGGCTCACATCTCCCTTGAGGGC
CAGAGCTGGGGTGTGTCTACACTACCCACAAGAGTCCTGTTCTGGGGGCAGGCTTCTGGCTGTG
TTGACCCTTAGCTCCCCAGGTCCCAGGGAGGATAAACAGCCCTTGGTCCCCAGCAGATACCAGG
CTCGTCAGGTGCCCGTTGGGCACTGAAACTCCCATGGAGTATTGGGGGACAGAGAGCGGGGCTT
CCTAAAGGCCAGTTGGCCAAACAGGCAGAGCCAGGAAGTGGCTGCCCTGGCCTCCCATGGGGCA
GAGTCATGTTGGCATCAGGAGGCCTGCGGGGCTGAGGGAACTTCCTGAGGACCTGAAGTCCCAG
GCCCAAACCTCCCTCGCTGGGAGCAAGGTCACCCTGTGGCCTCCGGCCTAAGGAACAAATTTTT
TGTTCCATCTGTGGCCTCCTGTTGTCGCTCAGTGAATGATGGGAGCACACTGTGATGTGGTGTG
GGCTGGGGGCATGTGGGGGCGGGTGTCCAGTGGCCCTCAGTTCCTGGAGCTCATTCAGCATCTG
CTCGAGGCTCCCCAGGGAAGGCAGCCCCAGAAGGTCTGGCTGCAGTAGGGGGTGGAGACCCCAG
GGCGGTCTCTTCAGCCCTTCCGTTCAGGATGCCTCAGCGTAGTTGAGGGCCTGGCCACCTGGGC
TGTTTCTGAATGGAACAAACAGCATCCATGTGTGTCAACCTCAACAGAGCCCAAAAATACGCCA
TTGAATGAAACAACACATTGCAGGATGATGGGCTCAGCCCAACCTCACTTGTGTAGACAATGTC
CCCCCAAATTATAAATTTTCTATGCCTCAGAACGTGTCTATAACAACATGTTTAAAAGGTAGAA
AGGATACACATCCCCTGTAGAAGAGTGACCTGAACTGGAGTTGCATTTGACATCTGATGTCAGC
ATGAGGGTGCTGGTCACCGGGGACTTGAGTACGTACTTTCCTTTCAAAAGCACAATAGATCAAG
ATACAGGTACACACATAGCTACAGATATAGATCCAGCCACAGATCCAGATTAGATATAGATGCA
TATAGAAGCCTAGAAAAGCCAATATGGAAAACTCTGGCAGTGTTTGATTCTGAGTGGCAAGCAT
ATTGGTGACTGTAATTATTTCTTGCAGTTTTCTATATTTTTTAGTTTCCCAAACTGCAAAAAAT
ACCCACAACAGTTACCAGAGAAAATGCTGGATGCCACAAGAAGGAAGAACCTCAAGGGGCAGGA
GGCAAAGTTGTCTTCTTGGAGGAGGGGGTGTTAGAAATAACCCAGGCCTCCTGGAAAATGACCC
AAATACAGCCTGGCTCTGCCAGCCCCAGGCCCTTCCCCACCCCCAGGGCACCCTTTCTGTCCCA
GTAGAGAAGGTGACCTGGAGTCAGGCCTTGTGTGTGCTCCAAGCGTTTGGAGCTTTACCGTGGG
ATGTGGGGAGCCAGGGGTGTTGTTTGCTGGCATTTCTGTGGCTGGGTCTTTCTGGCTGTGGAGC
TGTGTTTGTGGGCAGTGGCTGAGATGGAGGACCTGGGGCAGGTGTCTCAGTGACAGCGCAGTAT
CCTCCAGCCTCTTCCAGGGCCCCACGCTACTGGCTACCTGGCAATACAGTCCAGCAGTTGCTGC
TTCTCTAGGCCCCTGGTGCATTCAGAAACCTCCTGAAGGCCAGCGGAGGGTAAGCCAGGAACAG
ATCATGTCCATTGCACTTCACTAGCTGAGCGAGTTGGTTCTGCCCTTCTGATCCTTGGTCCCTC
AGGGCCAGGACAGGCCCGGTGACCCCATAATCATGCAGCCGTCATGCTCCGTCATCTGAAATTC
ACAAGGAAGGCAAGGATTCAAAGGAAGATGTCTGAGATGCTGAACTCCAGCTCAGCCACTTGTC
AACTCCTTGACCTTGGACAAGTTACTTAAATTAAGCCTTGATTTTTTTTCATCTGAATAAATAG
AGATAAAAATACTTATTTCATGGACACTTTCATATCAGTTTATTTGATTTAACCTCCTAGATTT
TTTTTTAGCACATGATAGCAACTTCTTAATAAATACTGGGTCCCTTCTCCTAGCCTTCCCATTG
CTGTTCTTTTTAATTCCATCCACATGTCCTGTGCCTGAAATATCCTGTGCCATGTGCCTGAAAT
TCCATTCTTCTCCTGGAACCCTTAACAGGCCACATTGCTATGCTCCGTTAGTCCCCTGCATGGC
TTAATGTATTAGGTAACATGAAGCATGTAAGGAAGAACTTTCTAACACAGGTGCTGAAATGGGA
CAGGAAATGCTGATGGAGTGAGCTCTTTGTCAATAGAAGTATTCAAGCAAA

hide sequence

RefSeq Acc Id:

NM_001321646 ⟹ NP_001308575

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,727,725 - 140,457,744 (-)	NCBI
CHM1_1	8	140,780,169 - 141,508,432 (-)	NCBI
T2T-CHM13v2.0	8	140,847,842 - 141,577,907 (-)	NCBI

Sequence:

show sequence

AGTAGGAAGCGCCAGCCCAGAGCCTGGGAAGTGGCCGCAGAGGCTGCTCGGCCCCGCTGCCCGC
CAGGTCGTGGGCTCCCGCTCCGGGCCCGGGGCCACCGGCTGTGGACTTCAAAATGAGCGTCCCT
GACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATCG
TCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGCG
GGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTGG
GGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCCA
AGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGTA
TGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGTG
GCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAGT
CACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGAT
CCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACAT
TACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGGA
TGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACTT
TCTGTGGCTTGGAGCTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGGT
GGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCCA
ATAGACACCGGCCAGGTGCCCTCACCACCAATGGCATCAACCCTGACACCAGTACTGAGATCGG
ACGTGCTAAGAACTGCCTTAGCCCTGAAGACATAATTGACAAGTATAAAGAGGCGATTTCCTAT
TACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTGGAAGCGTGCATCAAGGCTGTACGTGTCC
TTGCAATTCAGAAACGGAGCATGGAAGCATCAGAATTTCTTCAGAATGCAGTTTACATTAACCT
TCGACAGCTTTCTGAGGAAGAGAAAATTCAGCGCTACAGCATCCTCTCCGAGCTCTATGAGCTG
ATCGGCTTCCATCGCAAGTCTGCGTTCTTCAAGCGCGTGGCCGCCATGCAGTGCGTGGCCCCAA
GCATCGCGGAGCCTGGGTGGAGGGCCTGCTACAAACTCCTCCTGGAAACGCTGCCCGGCTACAG
TCTGTCGCTGGATCCCAAAGATTTCAGCAGAGGCACGCACAGAGGCTGGGCTGCGGTCCAGATG
CGTTTGCTCCATGAATTGGTCTACGCCTCCCGAAGGATGGGGAACCCTGCCCTCTCTGTCAGAC
ACCTGTCCTTCCTTCTACAGACCATGCTGGACTTCTTGTCGGATCAGGAAAAGAAAGATGTGGC
CCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGGGACCATGGAGCCCATCGCCCTCCCTGGC
GGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTTCCCATCGTCAGGCATGTGAAACTATTGA
ACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAAGCTTGCTGGGTCAGAACGTGTCAACCAA
AAGTCCTTTCATCTATTCACCAATTATCGCACACAACCGTGGAGAAGAGCGGAACAAGAAAATA
GATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTTCAGCTGATGGTATATAACCCAATGCCGT
TTGAACTTCGAGTTGAAAACATGGGGCTGCTCACCAGCGGAGTGGAGTTCGAGTCTCTCCCTGC
GGCGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCCAGTGACGCTCGTCGGGGTCCCGCAGACG
ACTGGAACGATTACTGTGAACGGTTACCATACCACGGTCTTCGGTGTGTTCAGTGACTGTTTGC
TGGATAACCTGCCGGGAATAAAAACCAGTGGCTCCACAGTGGAAGTCATTCCCGCGTTGCCAAG
ACTGCAGATCAGCACCTCTCTGCCCAGATCTGCACATTCATTGCAACCTTCTTCTGGTGATGAA
ATATCTACTAATGTATCTGTCCAGCTTTACAATGGAGAAAGTCAGCAACTAATCATTAAATTGG
AAAATATTGGAATGGAACCATTGGAGAAACTGGAGGTCACCTCGAAAGTTCTCACCACTAAAGA
AAAATTGTATGGCGACTTCTTGAGCTGGAAGCTAGAGGAAACCCTTGCCCAGTTCCCTTTGCAG
CCTGGGAAGGTGGCCACGTTCACAATCAACATCAAAGTGAAGCTGGATTTCTCCTGCCAGGAGA
ATCTCCTGCAGGATCTCAGTGATGATGGAATCAGTGTGAGTGGCTTTCCCCTGTCCAGTCCTTT
TCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACCTGTGAACCCACCCGAGAGCAACAAAGCA
GGCGACTACAGCCACGTGAAGACCCTGGAAGCTGTCCTGAATTTCAAATACTCTGGAGGCCCGG
GCCACACTGAAGGATATTACAGGAATCTCTCCCTGGGGCTGCATGTAGAAGTCGAGCCGTCTGT
ATTTTTCACCCGAGTCAGCACCCTCCCAGCAACCAGTACCCGGCAGTGTCACCTGCTCCTGGAT
GTCTTCAACTCCACCGAGCATGAGCTGACCGTCAGCACCAGGAGCAGCGAGGCACTCATCCTGC
ACGCCGGTGAGTGCCAGCGAATGGCTATTCAAGTGGACAAGTTCAACTTTGAGAGTTTCCCGGA
GTCCCCTGGGGAGAAGGGGCAATTTGCAAACCCCAAGCAGCTGGAGGAAGAGCGGCGGGAAGCC
CGAGGCCTGGAGATCCACAGCAAGCTGGGCATCTGCTGGAGAATCCCCTCCCTGAAGCGCAGTG
GCGAGGCGAGTGTGGAAGGACTCCTGAACCAGCTCGTCCTGGAGCACCTGCAGCTGGCGCCTCT
GCAGTGGGATGTGCTGGTGGACGGACAGCCATGTGACCGCGAGGCTGTGGCGGCCTGCCAGGTG
GGCGACCCCGTGCGCCTGGAGGTGCGGCTGACCAACCGGAGCCCGCGCAGCGTAGGGCCCTTCG
CCCTCACTGTGGTCCCCTTCCAGGACCACCAGAACGGCGTGCACAACTACGACCTGCACGACAC
CGTCTCCTTCGTGGGCTCCAGCACCTTCTACCTCGACGCGGTGCAGCCGTCCGGCCAGTCGGCC
TGCCTCGGGGCCCTCCTCTTCCTCTACACGGGAGACTTCTTCCTCCACATCCGGTTCCACGAGG
ACAGCACCAGCAAGGAGCTGCCACCCTCTTGGTTCTGCCTGCCCAGTGTGCACGTGTGTGCCCT
GGAGGCGCAGGCCTGAGCCCGCCTACTTCCGTCCCTCTTTCTGCAGGGCCAGAGGTGACCCTGC
CTGGCCTCCCACACCCCCTGCAATGAGCAAGGCCTTCACTGCAGCCCCATCTCCTCCTCCTCCC
CCAGACCCCTCCCAGCCCTCTCCTCCTGTTCCTCCTGTAGCATCTTTGCTGGGCTACGCAGAAG
CCCCGGACATGGCAGCCCCACCCCATGCCACGCCCCTTCCTACACTGTTCCCTGGACCATACAC
AGGCTGAAGCAGAGGAAATCCCAAAGCGGGTGCCCATCCAGCCCAGGTCCCAGGATCCCTGCAC
CCATTTCTGTGACCTGGGGCCCCAGCCGTGCTGTGCTGCTCATCCCAGCAGAGGGACCTCCCTC
GTCCAGCGACTTCCCTTTGGCCATAGAAAGAAATGGTGAGCATGAGACTGGGCACAGCCTGAGG
GCGTGGGCAGCTTCCCACCCTCCCTGGGCCTTGGAATCCCCCAAGGCTGGTTTTCTTCCTGGAG
ACCCCCATGGGCAACTTGGCAGGAGAGATGGTGCCGTAGGAGGTCGTGGATGGTTGATGCCAAG
AGAGGCCCTCCACCCGTGGTGGGCAAATGTCCAGGCCTGGGCTGGCAGCCCAGGGCTGTTTCTG
GGTGCTCCCTGGCCCCAGGGTGGCGTCTGGTTACCATGGCTGTGTGTGTCCATGTCTGCAAGCA
GTTCTTCAATAAATGGCCTGCCTCCCCCTCCCTGCCTCCCTGCATCTGCTAGCCCAGTGCAGTC
CGGGGCCCCCACCCAGCCCGTCAGCCCCCACCTCAGGTGGCTGGCTTCCCAGCAGAAGCCGGAC
CCAGGAAGGGACGGGTTCTGAGTTAGAGATCTCACATAAGCAAACGCTGAGACAGGAATCTGGT
CACCAGCAGCTTGTCTGGGAGGTGGAAGGAGGCCTGCAGGGGAGGGAGATCACCAGTGAAGGAG
TGTGACTGGGCCCGAGCTGCCGCCACAGTGGGCAGCTGGCCCTGCGTTCCTCAGGGAGGACCGG
AGAGAGAAAGCACACGGCTCACATCTCCCTTGAGGGCCAGAGCTGGGGTGTGTCTACACTACCC
ACAAGAGTCCTGTTCTGGGGGCAGGCTTCTGGCTGTGTTGACCCTTAGCTCCCCAGGTCCCAGG
GAGGATAAACAGCCCTTGGTCCCCAGCAGATACCAGGCTCGTCAGGTGCCCGTTGGGCACTGAA
ACTCCCATGGAGTATTGGGGGACAGAGAGCGGGGCTTCCTAAAGGCCAGTTGGCCAAACAGGCA
GAGCCAGGAAGTGGCTGCCCTGGCCTCCCATGGGGCAGAGTCATGTTGGCATCAGGAGGCCTGC
GGGGCTGAGGGAACTTCCTGAGGACCTGAAGTCCCAGGCCCAAACCTCCCTCGCTGGGAGCAAG
GTCACCCTGTGGCCTCCGGCCTAAGGAACAAATTTTTTGTTCCATCTGTGGCCTCCTGTTGTCG
CTCAGTGAATGATGGGAGCACACTGTGATGTGGTGTGGGCTGGGGGCATGTGGGGGCGGGTGTC
CAGTGGCCCTCAGTTCCTGGAGCTCATTCAGCATCTGCTCGAGGCTCCCCAGGGAAGGCAGCCC
CAGAAGGTCTGGCTGCAGTAGGGGGTGGAGACCCCAGGGCGGTCTCTTCAGCCCTTCCGTTCAG
GATGCCTCAGCGTAGTTGAGGGCCTGGCCACCTGGGCTGTTTCTGAATGGAACAAACAGCATCC
ATGTGTGTCAACCTCAACAGAGCCCAAAAATACGCCATTGAATGAAACAACACATTGCAGGATG
ATGGGCTCAGCCCAACCTCACTTGTGTAGACAATGTCCCCCCAAATTATAAATTTTCTATGCCT
CAGAACGTGTCTATAACAACATGTTTAAAAGGTAGAAAGGATACACATCCCCTGTAGAAGAGTG
ACCTGAACTGGAGTTGCATTTGACATCTGATGTCAGCATGAGGGTGCTGGTCACCGGGGACTTG
AGTACGTACTTTCCTTTCAAAAGCACAATAGATCAAGATACAGGTACACACATAGCTACAGATA
TAGATCCAGCCACAGATCCAGATTAGATATAGATGCATATAGAAGCCTAGAAAAGCCAATATGG
AAAACTCTGGCAGTGTTTGATTCTGAGTGGCAAGCATATTGGTGACTGTAATTATTTCTTGCAG
TTTTCTATATTTTTTAGTTTCCCAAACTGCAAAAAATACCCACAACAGTTACCAGAGAAAATGC
TGGATGCCACAAGAAGGAAGAACCTCAAGGGGCAGGAGGCAAAGTTGTCTTCTTGGAGGAGGGG
GTGTTAGAAATAACCCAGGCCTCCTGGAAAATGACCCAAATACAGCCTGGCTCTGCCAGCCCCA
GGCCCTTCCCCACCCCCAGGGCACCCTTTCTGTCCCAGTAGAGAAGGTGACCTGGAGTCAGGCC
TTGTGTGTGCTCCAAGCGTTTGGAGCTTTACCGTGGGATGTGGGGAGCCAGGGGTGTTGTTTGC
TGGCATTTCTGTGGCTGGGTCTTTCTGGCTGTGGAGCTGTGTTTGTGGGCAGTGGCTGAGATGG
AGGACCTGGGGCAGGTGTCTCAGTGACAGCGCAGTATCCTCCAGCCTCTTCCAGGGCCCCACGC
TACTGGCTACCTGGCAATACAGTCCAGCAGTTGCTGCTTCTCTAGGCCCCTGGTGCATTCAGAA
ACCTCCTGAAGGCCAGCGGAGGGTAAGCCAGGAACAGATCATGTCCATTGCACTTCACTAGCTG
AGCGAGTTGGTTCTGCCCTTCTGATCCTTGGTCCCTCAGGGCCAGGACAGGCCCGGTGACCCCA
TAATCATGCAGCCGTCATGCTCCGTCATCTGAAATTCACAAGGAAGGCAAGGATTCAAAGGAAG
ATGTCTGAGATGCTGAACTCCAGCTCAGCCACTTGTCAACTCCTTGACCTTGGACAAGTTACTT
AAATTAAGCCTTGATTTTTTTTCATCTGAATAAATAGAGATAAAAATACTTATTTCATGGACAC
TTTCATATCAGTTTATTTGATTTAACCTCCTAGATTTTTTTTTAGCACATGATAGCAACTTCTT
AATAAATACTGGGTCCCTTCTCCTAGCCTTCCCATTGCTGTTCTTTTTAATTCCATCCACATGT
CCTGTGCCTGAAATATCCTGTGCCATGTGCCTGAAATTCCATTCTTCTCCTGGAACCCTTAACA
GGCCACATTGCTATGCTCCGTTAGTCCCCTGCATGGCTTAATGTATTAGGTAACATGAAGCATG
TAAGGAAGAACTTTCTAACACAGGTGCTGAAATGGGACAGGAAATGCTGATGGAGTGAGCTCTT
TGTCAATAGAAGTATTCAAGCAAA

hide sequence

RefSeq Acc Id:

NM_001374682 ⟹ NP_001361611

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,727,725 - 140,457,744 (-)	NCBI
T2T-CHM13v2.0	8	140,847,842 - 141,577,907 (-)	NCBI

Sequence:

show sequence

AGTAGGAAGCGCCAGCCCAGAGCCTGGGAAGTGGCCGCAGAGGCTGCTCGGCCCCGCTGCCCGC
CAGGTCGTGGGCTCCCGCTCCGGGCCCGGGGCCACCGGCTGTGGACTTCAAAATGAGCGTCCCT
GACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATCG
TCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGCG
GGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTGG
GGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCCA
AGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGTA
TGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGTG
GCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAGT
CACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGAT
CCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGTGTG
TTATTGGGTCTGAAAAGACATTACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGG
ACCTGTGCCTGCAGGCAGGGATGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCT
GCTGCGTTCTGTGAATGACTTTCTGTGGCTTGGAGCTGCCCTGGAAGGATTGTGTTCAGCTTCT
GTCATCTATCACTATCCTGGTGGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCA
CCCTTCCTGCTGAAGCAGCCAATAGACACCGGCCAGGGGCACAGGAAGTTCTCATTGATCCAGG
TGCCCTCACCACCAATGGCATCAACCCTGACACCAGTACTGAGATCGGACGTGCTAAGAACTGC
CTTAGCCCTGAAGACATAATTGACAAGTATAAAGAGGCGATTTCCTATTACAGCAAGTATAAGA
ATGCGGGAGTGATTGAGTTGGAAGCGTGCATCAAGGCTGTACGTGTCCTTGCAATTCAGAAACG
GAGCATGGAAGCATCAGAATTTCTTCAGAATGCAGTTTACATTAACCTTCGACAGCTTTCTGAG
GAAGAGAAAATTCAGCGCTACAGCATCCTCTCCGAGCTCTATGAGCTGATCGGCTTCCATCGCA
AGTCTGCGTTCTTCAAGCGCGTGGCCGCCATGCAGTGCGTGGCCCCAAGCATCGCGGAGCCTGG
GTGGAGGGCCTGCTACAAACTCCTCCTGGAAACGCTGCCCGGCTACAGTCTGTCGCTGGATCCC
AAAGATTTCAGCAGAGGCACGCACAGAGGCTGGGCTGCGGTCCAGATGCGTTTGCTCCATGAAT
TGGTCTACGCCTCCCGAAGGATGGGGAACCCTGCCCTCTCTGTCAGACACCTGTCCTTCCTTCT
ACAGACCATGCTGGACTTCTTGTCGGATCAGGAAAAGAAAGATGTGGCCCAAAGCCTAGAGAAC
TATACGTCCAAGTGTCCTGGGACCATGGAGCCCATCGCCCTCCCTGGCGGCCTCACCCTGCCAC
CGGTGCCCTTCACCAAGCTTCCCATCGTCAGGCATGTGAAACTATTGAACCTTCCTGCTAGCCT
CCGGCCACACAAAATGAAAAGCTTGCTGGGTCAGAACGTGTCAACCAAAAGTCCTTTCATCTAT
TCACCAATTATCGCACACAACCGTGGAGAAGAGCGGAACAAGAAAATAGATTTCCAGTGGGTTC
AAGGAGATGTGTGTGAAGTTCAGCTGATGGTATATAACCCAATGCCGTTTGAACTTCGAGTTGA
AAACATGGGGCTGCTCACCAGCGGAGTGGAGTTCGAGTCTCTCCCTGCGGCGCTTTCTCTTCCG
GCTGAATCTGGTCTGTACCCAGTGACGCTCGTCGGGGTCCCGCAGACGACTGGAACGATTACTG
TGAACGGTTACCATACCACGGTCTTCGGTGTGTTCAGTGACTGTTTGCTGGATAACCTGCCGGG
AATAAAAACCAGTGGCTCCACAGTGGAAGTCATTCCCGCGTTGCCAAGACTGCAGATCAGCACC
TCTCTGCCCAGATCTGCACATTCATTGCAACCTTCTTCTGGTGATGAAATATCTACTAATGTAT
CTGTCCAGCTTTACAATGGAGAAAGTCAGCAACTAATCATTAAATTGGAAAATATTGGAATGGA
ACCATTGGAGAAACTGGAGGTCACCTCGAAAGTTCTCACCACTAAAGAAAAATTGTATGGCGAC
TTCTTGAGCTGGAAGCTAGAGGAAACCCTTGCCCAGTTCCCTTTGCAGCCTGGGAAGGTGGCCA
CGTTCACAATCAACATCAAAGTGAAGCTGGATTTCTCCTGCCAGGAGAATCTCCTGCAGGATCT
CAGTGATGATGGAATCAGTGTGAGTGGCTTTCCCCTGTCCAGTCCTTTTCGGCAGGTCGTTCGG
CCCCGAGTGGAGGGCAAACCTGTGAACCCACCCGAGAGCAACAAAGCAGGCGACTACAGCCACG
TGAAGACCCTGGAAGCTGTCCTGAATTTCAAATACTCTGGAGGCCCGGGCCACACTGAAGGATA
TTACAGGAATCTCTCCCTGGGGCTGCATGTAGAAGTCGAGCCGTCTGTATTTTTCACCCGAGTC
AGCACCCTCCCAGCAACCAGTACCCGGCAGTGTCACCTGCTCCTGGATGTCTTCAACTCCACCG
AGCATGAGCTGACCGTCAGCACCAGGAGCAGCGAGGCACTCATCCTGCACGCCGGTGAGTGCCA
GCGAATGGCTATTCAAGTGGACAAGTTCAACTTTGAGAGTTTCCCGGAGTCCCCTGGGGAGAAG
GGGCAATTTGCAAACCCCAAGCAGCTGGAGGAAGAGCGGCGGGAAGCCCGAGGCCTGGAGATCC
ACAGCAAGCTGGGCATCTGCTGGAGAATCCCCTCCCTGAAGCGCAGTGGCGAGGCGAGTGTGGA
AGGACTCCTGAACCAGCTCGTCCTGGAGCACCTGCAGCTGGCGCCTCTGCAGTGGGATGTGCTG
GTGGACGGACAGCCATGTGACCGCGAGGCTGTGGCGGCCTGCCAGGTGGGCGACCCCGTGCGCC
TGGAGGTGCGGCTGACCAACCGGAGCCCGCGCAGCGTAGGGCCCTTCGCCCTCACTGTGGTCCC
CTTCCAGGACCACCAGAACGGCGTGCACAACTACGACCTGCACGACACCGTCTCCTTCGTGGGC
TCCAGCACCTTCTACCTCGACGCGGTGCAGCCGTCCGGCCAGTCGGCCTGCCTCGGGGCCCTCC
TCTTCCTCTACACGGGAGACTTCTTCCTCCACATCCGGTTCCACGAGGACAGCACCAGCAAGGA
GCTGCCACCCTCTTGGTTCTGCCTGCCCAGTGTGCACGTGTGTGCCCTGGAGGCGCAGGCCTGA
GCCCGCCTACTTCCGTCCCTCTTTCTGCAGGGCCAGAGGTGACCCTGCCTGGCCTCCCACACCC
CCTGCAATGAGCAAGGCCTTCACTGCAGCCCCATCTCCTCCTCCTCCCCCAGACCCCTCCCAGC
CCTCTCCTCCTGTTCCTCCTGTAGCATCTTTGCTGGGCTACGCAGAAGCCCCGGACATGGCAGC
CCCACCCCATGCCACGCCCCTTCCTACACTGTTCCCTGGACCATACACAGGCTGAAGCAGAGGA
AATCCCAAAGCGGGTGCCCATCCAGCCCAGGTCCCAGGATCCCTGCACCCATTTCTGTGACCTG
GGGCCCCAGCCGTGCTGTGCTGCTCATCCCAGCAGAGGGACCTCCCTCGTCCAGCGACTTCCCT
TTGGCCATAGAAAGAAATGGTGAGCATGAGACTGGGCACAGCCTGAGGGCGTGGGCAGCTTCCC
ACCCTCCCTGGGCCTTGGAATCCCCCAAGGCTGGTTTTCTTCCTGGAGACCCCCATGGGCAACT
TGGCAGGAGAGATGGTGCCGTAGGAGGTCGTGGATGGTTGATGCCAAGAGAGGCCCTCCACCCG
TGGTGGGCAAATGTCCAGGCCTGGGCTGGCAGCCCAGGGCTGTTTCTGGGTGCTCCCTGGCCCC
AGGGTGGCGTCTGGTTACCATGGCTGTGTGTGTCCATGTCTGCAAGCAGTTCTTCAATAAATGG
CCTGCCTCCCCCTCCCTGCCTCCCTGCATCTGCTAGCCCAGTGCAGTCCGGGGCCCCCACCCAG
CCCGTCAGCCCCCACCTCAGGTGGCTGGCTTCCCAGCAGAAGCCGGACCCAGGAAGGGACGGGT
TCTGAGTTAGAGATCTCACATAAGCAAACGCTGAGACAGGAATCTGGTCACCAGCAGCTTGTCT
GGGAGGTGGAAGGAGGCCTGCAGGGGAGGGAGATCACCAGTGAAGGAGTGTGACTGGGCCCGAG
CTGCCGCCACAGTGGGCAGCTGGCCCTGCGTTCCTCAGGGAGGACCGGAGAGAGAAAGCACACG
GCTCACATCTCCCTTGAGGGCCAGAGCTGGGGTGTGTCTACACTACCCACAAGAGTCCTGTTCT
GGGGGCAGGCTTCTGGCTGTGTTGACCCTTAGCTCCCCAGGTCCCAGGGAGGATAAACAGCCCT
TGGTCCCCAGCAGATACCAGGCTCGTCAGGTGCCCGTTGGGCACTGAAACTCCCATGGAGTATT
GGGGGACAGAGAGCGGGGCTTCCTAAAGGCCAGTTGGCCAAACAGGCAGAGCCAGGAAGTGGCT
GCCCTGGCCTCCCATGGGGCAGAGTCATGTTGGCATCAGGAGGCCTGCGGGGCTGAGGGAACTT
CCTGAGGACCTGAAGTCCCAGGCCCAAACCTCCCTCGCTGGGAGCAAGGTCACCCTGTGGCCTC
CGGCCTAAGGAACAAATTTTTTGTTCCATCTGTGGCCTCCTGTTGTCGCTCAGTGAATGATGGG
AGCACACTGTGATGTGGTGTGGGCTGGGGGCATGTGGGGGCGGGTGTCCAGTGGCCCTCAGTTC
CTGGAGCTCATTCAGCATCTGCTCGAGGCTCCCCAGGGAAGGCAGCCCCAGAAGGTCTGGCTGC
AGTAGGGGGTGGAGACCCCAGGGCGGTCTCTTCAGCCCTTCCGTTCAGGATGCCTCAGCGTAGT
TGAGGGCCTGGCCACCTGGGCTGTTTCTGAATGGAACAAACAGCATCCATGTGTGTCAACCTCA
ACAGAGCCCAAAAATACGCCATTGAATGAAACAACACATTGCAGGATGATGGGCTCAGCCCAAC
CTCACTTGTGTAGACAATGTCCCCCCAAATTATAAATTTTCTATGCCTCAGAACGTGTCTATAA
CAACATGTTTAAAAGGTAGAAAGGATACACATCCCCTGTAGAAGAGTGACCTGAACTGGAGTTG
CATTTGACATCTGATGTCAGCATGAGGGTGCTGGTCACCGGGGACTTGAGTACGTACTTTCCTT
TCAAAAGCACAATAGATCAAGATACAGGTACACACATAGCTACAGATATAGATCCAGCCACAGA
TCCAGATTAGATATAGATGCATATAGAAGCCTAGAAAAGCCAATATGGAAAACTCTGGCAGTGT
TTGATTCTGAGTGGCAAGCATATTGGTGACTGTAATTATTTCTTGCAGTTTTCTATATTTTTTA
GTTTCCCAAACTGCAAAAAATACCCACAACAGTTACCAGAGAAAATGCTGGATGCCACAAGAAG
GAAGAACCTCAAGGGGCAGGAGGCAAAGTTGTCTTCTTGGAGGAGGGGGTGTTAGAAATAACCC
AGGCCTCCTGGAAAATGACCCAAATACAGCCTGGCTCTGCCAGCCCCAGGCCCTTCCCCACCCC
CAGGGCACCCTTTCTGTCCCAGTAGAGAAGGTGACCTGGAGTCAGGCCTTGTGTGTGCTCCAAG
CGTTTGGAGCTTTACCGTGGGATGTGGGGAGCCAGGGGTGTTGTTTGCTGGCATTTCTGTGGCT
GGGTCTTTCTGGCTGTGGAGCTGTGTTTGTGGGCAGTGGCTGAGATGGAGGACCTGGGGCAGGT
GTCTCAGTGACAGCGCAGTATCCTCCAGCCTCTTCCAGGGCCCCACGCTACTGGCTACCTGGCA
ATACAGTCCAGCAGTTGCTGCTTCTCTAGGCCCCTGGTGCATTCAGAAACCTCCTGAAGGCCAG
CGGAGGGTAAGCCAGGAACAGATCATGTCCATTGCACTTCACTAGCTGAGCGAGTTGGTTCTGC
CCTTCTGATCCTTGGTCCCTCAGGGCCAGGACAGGCCCGGTGACCCCATAATCATGCAGCCGTC
ATGCTCCGTCATCTGAAATTCACAAGGAAGGCAAGGATTCAAAGGAAGATGTCTGAGATGCTGA
ACTCCAGCTCAGCCACTTGTCAACTCCTTGACCTTGGACAAGTTACTTAAATTAAGCCTTGATT
TTTTTTCATCTGAATAAATAGAGATAAAAATACTTATTTCATGGACACTTTCATATCAGTTTAT
TTGATTTAACCTCCTAGATTTTTTTTTAGCACATGATAGCAACTTCTTAATAAATACTGGGTCC
CTTCTCCTAGCCTTCCCATTGCTGTTCTTTTTAATTCCATCCACATGTCCTGTGCCTGAAATAT
CCTGTGCCATGTGCCTGAAATTCCATTCTTCTCCTGGAACCCTTAACAGGCCACATTGCTATGC
TCCGTTAGTCCCCTGCATGGCTTAATGTATTAGGTAACATGAAGCATGTAAGGAAGAACTTTCT
AACACAGGTGCTGAAATGGGACAGGAAATGCTGATGGAGTGAGCTCTTTGTCAATAGAAGTATT
CAAGCAAA

hide sequence

RefSeq Acc Id:

NM_001374683 ⟹ NP_001361612

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,727,725 - 140,457,744 (-)	NCBI
T2T-CHM13v2.0	8	140,847,842 - 141,577,907 (-)	NCBI

Sequence:

show sequence

AGTAGGAAGCGCCAGCCCAGAGCCTGGGAAGTGGCCGCAGAGGCTGCTCGGCCCCGCTGCCCGC
CAGGTCGTGGGCTCCCGCTCCGGGCCCGGGGCCACCGGCTGTGGACTTCAAAATGAGCGTCCCT
GACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATCG
TCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGCG
GGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTGG
GGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCCA
AGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGTA
TGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGTG
GCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAGT
CACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGAT
CCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACAT
TACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGGA
TGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACTT
TCTGTGGCTTGGAGCTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGGT
GGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCCA
ATAGACACCGGCCAGGGGCACAGGAAGTTCTCATTGATCCAGGTGCCCTCACCACCAATGGCAT
CAACCCTGACACCAGTACTGAGATCGGACGTGCTAAGAACTGCCTTAGCCCTGAAGACATAATT
GACAAGTATAAAGAGGCGATTTCCTATTACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTGG
AAGCGTGCATCAAGGCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAATT
TCTTCAGAATGCAGTTTACATTAACCTTCGACAGCTTTCTGAGGAAGAGAAAATTCAGCGCTAC
AGCATCCTCTCCGAGCTCTATGAGCTGATCGGCTTCCATCGCAAGTCTGCGTTCTTCAAGCGCG
TGGCCGCCATGCAGTGCGTGGCCCCAAGCATCGCGGAGCCTGGGTGGAGGGCCTGCTACAAACT
CCTCCTGGAAACGCTGCCCGGCTACAGTCTGTCGCTGGATCCCAAAGATTTCAGCAGAGGCACG
CACAGAGGCTGGGCTGCGGTCCAGATGCGTTTGCTCCATGAATTGGTCTACGCCTCCCGAAGGA
TGGGGAACCCTGCCCTCTCTGTCAGACACCTGTCCTTCCTTCTACAGACCATGCTGGACTTCTT
GTCGGATCAGGAAAAGAAAGATGTGGCCCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGGG
ACCATGGAGCCCATCGCCCTCCCTGGCGGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTTC
CCATCGTCAGGCATGTGAAACTATTGAACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAAG
CTTGCTGGGTCAGAACGTGTCAACCAAAAGTCCTTTCATCTATTCACCAATTATCGCACACAAC
CGTGGAGAAGAGCGGAACAAGAAAATAGATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTTC
AGCTGATGGTATATAACCCAATGCCGTTTGAACTTCGAGTTGAAAACATGGGGCTGCTCACCAG
CGGAGTGGAGTTCGAGTCTCTCCCTGCGGCGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCCA
GTGACGCTCGTCGGGGTCCCGCAGACGACTGGAACGATTACTGTGAACGGTTACCATACCACGG
TCTTCGGTGTGTTCAGTGACTGTTTGCTGGATAACCTGCCGGGAATAAAAACCAGTGGCTCCAC
AGTGGAAGTCATTCCCGCGTTGCCAAGACTGCAGATCAGCACCTCTCTGCCCAGATCTGCACAT
TCATTGCAACCTTCTTCTGGTGATGAAATATCTACTAATGTATCTGTCCAGCTTTACAATGGAG
AAAGTCAGCAACTAATCATTAAATTGGAAAATATTGGAATGGAACCATTGGAGAAACTGGAGGT
CACCTCGAAAGTTCTCACCACTAAAGAAAAATTGTATGGCGACTTCTTGAGCTGGAAGCTAGAG
GAAACCCTTGCCCAGTTCCCTTTGCAGCCTGGGAAGGTGGCCACGTTCACAATCAACATCAAAG
TGAAGCTGGATTTCTCCTGCCAGGAGAATCTCCTGCAGGATCTCAGTGATGATGGAATCAGTGT
GAGTGGCTTTCCCCTGTCCAGTCCTTTTCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACCT
GTGAACCCACCCGAGAGCAACAAAGCAGGCGACTACAGCCACGTGAAGACCCTGGAAGCTGTCC
TGAATTTCAAATACTCTGGAGGCCCGGGCCACACTGAAGGATATTACAGGAATCTCTCCCTGGG
GCTGCATGTAGAAGTCGAGCCGTCTGTATTTTTCACCCGAGTCAGCACCCTCCCAGCAACCAGA
ATGGCTATTCAAGTGGACAAGTTCAACTTTGAGAGTTTCCCGGAGTCCCCTGGGGAGAAGGGGC
AATTTGCAAACCCCAAGCAGCTGGAGGAAGAGCGGCGGGAAGCCCGAGGCCTGGAGATCCACAG
CAAGCTGGGCATCTGCTGGAGAATCCCCTCCCTGAAGCGCAGTGGCGAGGCGAGTGTGGAAGGA
CTCCTGAACCAGCTCGTCCTGGAGCACCTGCAGCTGGCGCCTCTGCAGTGGGATGTGCTGGTGG
ACGGACAGCCATGTGACCGCGAGGCTGTGGCGGCCTGCCAGGTGGGCGACCCCGTGCGCCTGGA
GGTGCGGCTGACCAACCGGAGCCCGCGCAGCGTAGGGCCCTTCGCCCTCACTGTGGTCCCCTTC
CAGGACCACCAGAACGGCGTGCACAACTACGACCTGCACGACACCGTCTCCTTCGTGGGCTCCA
GCACCTTCTACCTCGACGCGGTGCAGCCGTCCGGCCAGTCGGCCTGCCTCGGGGCCCTCCTCTT
CCTCTACACGGGAGACTTCTTCCTCCACATCCGGTTCCACGAGGACAGCACCAGCAAGGAGCTG
CCACCCTCTTGGTTCTGCCTGCCCAGTGTGCACGTGTGTGCCCTGGAGGCGCAGGCCTGAGCCC
GCCTACTTCCGTCCCTCTTTCTGCAGGGCCAGAGGTGACCCTGCCTGGCCTCCCACACCCCCTG
CAATGAGCAAGGCCTTCACTGCAGCCCCATCTCCTCCTCCTCCCCCAGACCCCTCCCAGCCCTC
TCCTCCTGTTCCTCCTGTAGCATCTTTGCTGGGCTACGCAGAAGCCCCGGACATGGCAGCCCCA
CCCCATGCCACGCCCCTTCCTACACTGTTCCCTGGACCATACACAGGCTGAAGCAGAGGAAATC
CCAAAGCGGGTGCCCATCCAGCCCAGGTCCCAGGATCCCTGCACCCATTTCTGTGACCTGGGGC
CCCAGCCGTGCTGTGCTGCTCATCCCAGCAGAGGGACCTCCCTCGTCCAGCGACTTCCCTTTGG
CCATAGAAAGAAATGGTGAGCATGAGACTGGGCACAGCCTGAGGGCGTGGGCAGCTTCCCACCC
TCCCTGGGCCTTGGAATCCCCCAAGGCTGGTTTTCTTCCTGGAGACCCCCATGGGCAACTTGGC
AGGAGAGATGGTGCCGTAGGAGGTCGTGGATGGTTGATGCCAAGAGAGGCCCTCCACCCGTGGT
GGGCAAATGTCCAGGCCTGGGCTGGCAGCCCAGGGCTGTTTCTGGGTGCTCCCTGGCCCCAGGG
TGGCGTCTGGTTACCATGGCTGTGTGTGTCCATGTCTGCAAGCAGTTCTTCAATAAATGGCCTG
CCTCCCCCTCCCTGCCTCCCTGCATCTGCTAGCCCAGTGCAGTCCGGGGCCCCCACCCAGCCCG
TCAGCCCCCACCTCAGGTGGCTGGCTTCCCAGCAGAAGCCGGACCCAGGAAGGGACGGGTTCTG
AGTTAGAGATCTCACATAAGCAAACGCTGAGACAGGAATCTGGTCACCAGCAGCTTGTCTGGGA
GGTGGAAGGAGGCCTGCAGGGGAGGGAGATCACCAGTGAAGGAGTGTGACTGGGCCCGAGCTGC
CGCCACAGTGGGCAGCTGGCCCTGCGTTCCTCAGGGAGGACCGGAGAGAGAAAGCACACGGCTC
ACATCTCCCTTGAGGGCCAGAGCTGGGGTGTGTCTACACTACCCACAAGAGTCCTGTTCTGGGG
GCAGGCTTCTGGCTGTGTTGACCCTTAGCTCCCCAGGTCCCAGGGAGGATAAACAGCCCTTGGT
CCCCAGCAGATACCAGGCTCGTCAGGTGCCCGTTGGGCACTGAAACTCCCATGGAGTATTGGGG
GACAGAGAGCGGGGCTTCCTAAAGGCCAGTTGGCCAAACAGGCAGAGCCAGGAAGTGGCTGCCC
TGGCCTCCCATGGGGCAGAGTCATGTTGGCATCAGGAGGCCTGCGGGGCTGAGGGAACTTCCTG
AGGACCTGAAGTCCCAGGCCCAAACCTCCCTCGCTGGGAGCAAGGTCACCCTGTGGCCTCCGGC
CTAAGGAACAAATTTTTTGTTCCATCTGTGGCCTCCTGTTGTCGCTCAGTGAATGATGGGAGCA
CACTGTGATGTGGTGTGGGCTGGGGGCATGTGGGGGCGGGTGTCCAGTGGCCCTCAGTTCCTGG
AGCTCATTCAGCATCTGCTCGAGGCTCCCCAGGGAAGGCAGCCCCAGAAGGTCTGGCTGCAGTA
GGGGGTGGAGACCCCAGGGCGGTCTCTTCAGCCCTTCCGTTCAGGATGCCTCAGCGTAGTTGAG
GGCCTGGCCACCTGGGCTGTTTCTGAATGGAACAAACAGCATCCATGTGTGTCAACCTCAACAG
AGCCCAAAAATACGCCATTGAATGAAACAACACATTGCAGGATGATGGGCTCAGCCCAACCTCA
CTTGTGTAGACAATGTCCCCCCAAATTATAAATTTTCTATGCCTCAGAACGTGTCTATAACAAC
ATGTTTAAAAGGTAGAAAGGATACACATCCCCTGTAGAAGAGTGACCTGAACTGGAGTTGCATT
TGACATCTGATGTCAGCATGAGGGTGCTGGTCACCGGGGACTTGAGTACGTACTTTCCTTTCAA
AAGCACAATAGATCAAGATACAGGTACACACATAGCTACAGATATAGATCCAGCCACAGATCCA
GATTAGATATAGATGCATATAGAAGCCTAGAAAAGCCAATATGGAAAACTCTGGCAGTGTTTGA
TTCTGAGTGGCAAGCATATTGGTGACTGTAATTATTTCTTGCAGTTTTCTATATTTTTTAGTTT
CCCAAACTGCAAAAAATACCCACAACAGTTACCAGAGAAAATGCTGGATGCCACAAGAAGGAAG
AACCTCAAGGGGCAGGAGGCAAAGTTGTCTTCTTGGAGGAGGGGGTGTTAGAAATAACCCAGGC
CTCCTGGAAAATGACCCAAATACAGCCTGGCTCTGCCAGCCCCAGGCCCTTCCCCACCCCCAGG
GCACCCTTTCTGTCCCAGTAGAGAAGGTGACCTGGAGTCAGGCCTTGTGTGTGCTCCAAGCGTT
TGGAGCTTTACCGTGGGATGTGGGGAGCCAGGGGTGTTGTTTGCTGGCATTTCTGTGGCTGGGT
CTTTCTGGCTGTGGAGCTGTGTTTGTGGGCAGTGGCTGAGATGGAGGACCTGGGGCAGGTGTCT
CAGTGACAGCGCAGTATCCTCCAGCCTCTTCCAGGGCCCCACGCTACTGGCTACCTGGCAATAC
AGTCCAGCAGTTGCTGCTTCTCTAGGCCCCTGGTGCATTCAGAAACCTCCTGAAGGCCAGCGGA
GGGTAAGCCAGGAACAGATCATGTCCATTGCACTTCACTAGCTGAGCGAGTTGGTTCTGCCCTT
CTGATCCTTGGTCCCTCAGGGCCAGGACAGGCCCGGTGACCCCATAATCATGCAGCCGTCATGC
TCCGTCATCTGAAATTCACAAGGAAGGCAAGGATTCAAAGGAAGATGTCTGAGATGCTGAACTC
CAGCTCAGCCACTTGTCAACTCCTTGACCTTGGACAAGTTACTTAAATTAAGCCTTGATTTTTT
TTCATCTGAATAAATAGAGATAAAAATACTTATTTCATGGACACTTTCATATCAGTTTATTTGA
TTTAACCTCCTAGATTTTTTTTTAGCACATGATAGCAACTTCTTAATAAATACTGGGTCCCTTC
TCCTAGCCTTCCCATTGCTGTTCTTTTTAATTCCATCCACATGTCCTGTGCCTGAAATATCCTG
TGCCATGTGCCTGAAATTCCATTCTTCTCCTGGAACCCTTAACAGGCCACATTGCTATGCTCCG
TTAGTCCCCTGCATGGCTTAATGTATTAGGTAACATGAAGCATGTAAGGAAGAACTTTCTAACA
CAGGTGCTGAAATGGGACAGGAAATGCTGATGGAGTGAGCTCTTTGTCAATAGAAGTATTCAAG
CAAA

hide sequence

RefSeq Acc Id:

NM_001374684 ⟹ NP_001361613

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,727,725 - 140,457,744 (-)	NCBI
T2T-CHM13v2.0	8	140,847,842 - 141,577,907 (-)	NCBI

Sequence:

show sequence

AGTAGGAAGCGCCAGCCCAGAGCCTGGGAAGTGGCCGCAGAGGCTGCTCGGCCCCGCTGCCCGC
CAGGTCGTGGGCTCCCGCTCCGGGCCCGGGGCCACCGGCTGTGGACTTCAAAATGAGCGTCCCT
GACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATCG
TCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGCG
GGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTGG
GGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCCA
AGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGTA
TGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGTG
GCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAGT
CACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGAT
CCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACAT
TACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGGA
TGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACTT
TCTGTGGCTTGGAGCTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGGT
GGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCCA
ATAGACACCGGCCAGGGGCACAGGAAGTTCTCATTGATCCAGGTGCCCTCACCACCAATGGCAT
CAACCCTGACACCAGTACTGAGATCGGACGTGCTAAGAACTGCCTTAGCCCTGAAGACATAATT
GACAAGTATAAAGAGGCGATTTCCTATTACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTGG
AAGCGTGCATCAAGGCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAATT
TCTTCAGAATGCAGTTTACATTAACCTTCGACAGCTTTCTGAGGAAGAGAAAATTCAGCGCTAC
AGCATCCTCTCCGAGCTCTATGAGCTGATCGGCTTCCATCGCAAGTCTGCGTTCTTCAAGCGCG
TGGCCGCCATGCAGTGCGTGGCCCCAAGCATCGCGGAGCCTGGGTGGAGGGCCTGCTACAAACT
CCTCCTGGAAACGCTGCCCGGCTACAGTCTGTCGCTGGATCCCAAAGATTTCAGCAGAGAAAAG
AAAGATGTGGCCCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGGGACCATGGAGCCCATCG
CCCTCCCTGGCGGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTTCCCATCGTCAGGCATGT
GAAACTATTGAACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAAGCTTGCTGGGTCAGAAC
GTGTCAACCAAAAGTCCTTTCATCTATTCACCAATTATCGCACACAACCGTGGAGAAGAGCGGA
ACAAGAAAATAGATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTTCAGCTGATGGTATATAA
CCCAATGCCGTTTGAACTTCGAGTTGAAAACATGGGGCTGCTCACCAGCGGAGTGGAGTTCGAG
TCTCTCCCTGCGGCGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCCAGTGACGCTCGTCGGGG
TCCCGCAGACGACTGGAACGATTACTGTGAACGGTTACCATACCACGGTCTTCGGTGTGTTCAG
TGACTGTTTGCTGGATAACCTGCCGGGAATAAAAACCAGTGGCTCCACAGTGGAAGTCATTCCC
GCGTTGCCAAGACTGCAGATCAGCACCTCTCTGCCCAGATCTGCACATTCATTGCAACCTTCTT
CTGGTGATGAAATATCTACTAATGTATCTGTCCAGCTTTACAATGGAGAAAGTCAGCAACTAAT
CATTAAATTGGAAAATATTGGAATGGAACCATTGGAGAAACTGGAGGTCACCTCGAAAGTTCTC
ACCACTAAAGAAAAATTGTATGGCGACTTCTTGAGCTGGAAGCTAGAGGAAACCCTTGCCCAGT
TCCCTTTGCAGCCTGGGAAGGTGGCCACGTTCACAATCAACATCAAAGTGAAGCTGGATTTCTC
CTGCCAGGAGAATCTCCTGCAGGATCTCAGTGATGATGGAATCAGTGTGAGTGGCTTTCCCCTG
TCCAGTCCTTTTCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACCTGTGAACCCACCCGAGA
GCAACAAAGCAGGCGACTACAGCCACGTGAAGACCCTGGAAGCTGTCCTGAATTTCAAATACTC
TGGAGGCCCGGGCCACACTGAAGGATATTACAGGAATCTCTCCCTGGGGCTGCATGTAGAAGTC
GAGCCGTCTGTATTTTTCACCCGAGTCAGCACCCTCCCAGCAACCAGTACCCGGCAGTGTCACC
TGCTCCTGGATGTCTTCAACTCCACCGAGCATGAGCTGACCGTCAGCACCAGGAGCAGCGAGGC
ACTCATCCTGCACGCCGGTGAGTGCCAGCGAATGGCTATTCAAGTGGACAAGTTCAACTTTGAG
AGTTTCCCGGAGTCCCCTGGGGAGAAGGGGCAATTTGCAAACCCCAAGCAGCTGGAGGAAGAGC
GGCGGGAAGCCCGAGGCCTGGAGATCCACAGCAAGCTGGGCATCTGCTGGAGAATCCCCTCCCT
GAAGCGCAGTGGCGAGGCGAGTGTGGAAGGACTCCTGAACCAGCTCGTCCTGGAGCACCTGCAG
CTGGCGCCTCTGCAGTGGGATGTGCTGGTGGACGGACAGCCATGTGACCGCGAGGCTGTGGCGG
CCTGCCAGGTGGGCGACCCCGTGCGCCTGGAGGTGCGGCTGACCAACCGGAGCCCGCGCAGCGT
AGGGCCCTTCGCCCTCACTGTGGTCCCCTTCCAGGACCACCAGAACGGCGTGCACAACTACGAC
CTGCACGACACCGTCTCCTTCGTGGGCTCCAGCACCTTCTACCTCGACGCGGTGCAGCCGTCCG
GCCAGTCGGCCTGCCTCGGGGCCCTCCTCTTCCTCTACACGGGAGACTTCTTCCTCCACATCCG
GTTCCACGAGGACAGCACCAGCAAGGAGCTGCCACCCTCTTGGTTCTGCCTGCCCAGTGTGCAC
GTGTGTGCCCTGGAGGCGCAGGCCTGAGCCCGCCTACTTCCGTCCCTCTTTCTGCAGGGCCAGA
GGTGACCCTGCCTGGCCTCCCACACCCCCTGCAATGAGCAAGGCCTTCACTGCAGCCCCATCTC
CTCCTCCTCCCCCAGACCCCTCCCAGCCCTCTCCTCCTGTTCCTCCTGTAGCATCTTTGCTGGG
CTACGCAGAAGCCCCGGACATGGCAGCCCCACCCCATGCCACGCCCCTTCCTACACTGTTCCCT
GGACCATACACAGGCTGAAGCAGAGGAAATCCCAAAGCGGGTGCCCATCCAGCCCAGGTCCCAG
GATCCCTGCACCCATTTCTGTGACCTGGGGCCCCAGCCGTGCTGTGCTGCTCATCCCAGCAGAG
GGACCTCCCTCGTCCAGCGACTTCCCTTTGGCCATAGAAAGAAATGGTGAGCATGAGACTGGGC
ACAGCCTGAGGGCGTGGGCAGCTTCCCACCCTCCCTGGGCCTTGGAATCCCCCAAGGCTGGTTT
TCTTCCTGGAGACCCCCATGGGCAACTTGGCAGGAGAGATGGTGCCGTAGGAGGTCGTGGATGG
TTGATGCCAAGAGAGGCCCTCCACCCGTGGTGGGCAAATGTCCAGGCCTGGGCTGGCAGCCCAG
GGCTGTTTCTGGGTGCTCCCTGGCCCCAGGGTGGCGTCTGGTTACCATGGCTGTGTGTGTCCAT
GTCTGCAAGCAGTTCTTCAATAAATGGCCTGCCTCCCCCTCCCTGCCTCCCTGCATCTGCTAGC
CCAGTGCAGTCCGGGGCCCCCACCCAGCCCGTCAGCCCCCACCTCAGGTGGCTGGCTTCCCAGC
AGAAGCCGGACCCAGGAAGGGACGGGTTCTGAGTTAGAGATCTCACATAAGCAAACGCTGAGAC
AGGAATCTGGTCACCAGCAGCTTGTCTGGGAGGTGGAAGGAGGCCTGCAGGGGAGGGAGATCAC
CAGTGAAGGAGTGTGACTGGGCCCGAGCTGCCGCCACAGTGGGCAGCTGGCCCTGCGTTCCTCA
GGGAGGACCGGAGAGAGAAAGCACACGGCTCACATCTCCCTTGAGGGCCAGAGCTGGGGTGTGT
CTACACTACCCACAAGAGTCCTGTTCTGGGGGCAGGCTTCTGGCTGTGTTGACCCTTAGCTCCC
CAGGTCCCAGGGAGGATAAACAGCCCTTGGTCCCCAGCAGATACCAGGCTCGTCAGGTGCCCGT
TGGGCACTGAAACTCCCATGGAGTATTGGGGGACAGAGAGCGGGGCTTCCTAAAGGCCAGTTGG
CCAAACAGGCAGAGCCAGGAAGTGGCTGCCCTGGCCTCCCATGGGGCAGAGTCATGTTGGCATC
AGGAGGCCTGCGGGGCTGAGGGAACTTCCTGAGGACCTGAAGTCCCAGGCCCAAACCTCCCTCG
CTGGGAGCAAGGTCACCCTGTGGCCTCCGGCCTAAGGAACAAATTTTTTGTTCCATCTGTGGCC
TCCTGTTGTCGCTCAGTGAATGATGGGAGCACACTGTGATGTGGTGTGGGCTGGGGGCATGTGG
GGGCGGGTGTCCAGTGGCCCTCAGTTCCTGGAGCTCATTCAGCATCTGCTCGAGGCTCCCCAGG
GAAGGCAGCCCCAGAAGGTCTGGCTGCAGTAGGGGGTGGAGACCCCAGGGCGGTCTCTTCAGCC
CTTCCGTTCAGGATGCCTCAGCGTAGTTGAGGGCCTGGCCACCTGGGCTGTTTCTGAATGGAAC
AAACAGCATCCATGTGTGTCAACCTCAACAGAGCCCAAAAATACGCCATTGAATGAAACAACAC
ATTGCAGGATGATGGGCTCAGCCCAACCTCACTTGTGTAGACAATGTCCCCCCAAATTATAAAT
TTTCTATGCCTCAGAACGTGTCTATAACAACATGTTTAAAAGGTAGAAAGGATACACATCCCCT
GTAGAAGAGTGACCTGAACTGGAGTTGCATTTGACATCTGATGTCAGCATGAGGGTGCTGGTCA
CCGGGGACTTGAGTACGTACTTTCCTTTCAAAAGCACAATAGATCAAGATACAGGTACACACAT
AGCTACAGATATAGATCCAGCCACAGATCCAGATTAGATATAGATGCATATAGAAGCCTAGAAA
AGCCAATATGGAAAACTCTGGCAGTGTTTGATTCTGAGTGGCAAGCATATTGGTGACTGTAATT
ATTTCTTGCAGTTTTCTATATTTTTTAGTTTCCCAAACTGCAAAAAATACCCACAACAGTTACC
AGAGAAAATGCTGGATGCCACAAGAAGGAAGAACCTCAAGGGGCAGGAGGCAAAGTTGTCTTCT
TGGAGGAGGGGGTGTTAGAAATAACCCAGGCCTCCTGGAAAATGACCCAAATACAGCCTGGCTC
TGCCAGCCCCAGGCCCTTCCCCACCCCCAGGGCACCCTTTCTGTCCCAGTAGAGAAGGTGACCT
GGAGTCAGGCCTTGTGTGTGCTCCAAGCGTTTGGAGCTTTACCGTGGGATGTGGGGAGCCAGGG
GTGTTGTTTGCTGGCATTTCTGTGGCTGGGTCTTTCTGGCTGTGGAGCTGTGTTTGTGGGCAGT
GGCTGAGATGGAGGACCTGGGGCAGGTGTCTCAGTGACAGCGCAGTATCCTCCAGCCTCTTCCA
GGGCCCCACGCTACTGGCTACCTGGCAATACAGTCCAGCAGTTGCTGCTTCTCTAGGCCCCTGG
TGCATTCAGAAACCTCCTGAAGGCCAGCGGAGGGTAAGCCAGGAACAGATCATGTCCATTGCAC
TTCACTAGCTGAGCGAGTTGGTTCTGCCCTTCTGATCCTTGGTCCCTCAGGGCCAGGACAGGCC
CGGTGACCCCATAATCATGCAGCCGTCATGCTCCGTCATCTGAAATTCACAAGGAAGGCAAGGA
TTCAAAGGAAGATGTCTGAGATGCTGAACTCCAGCTCAGCCACTTGTCAACTCCTTGACCTTGG
ACAAGTTACTTAAATTAAGCCTTGATTTTTTTTCATCTGAATAAATAGAGATAAAAATACTTAT
TTCATGGACACTTTCATATCAGTTTATTTGATTTAACCTCCTAGATTTTTTTTTAGCACATGAT
AGCAACTTCTTAATAAATACTGGGTCCCTTCTCCTAGCCTTCCCATTGCTGTTCTTTTTAATTC
CATCCACATGTCCTGTGCCTGAAATATCCTGTGCCATGTGCCTGAAATTCCATTCTTCTCCTGG
AACCCTTAACAGGCCACATTGCTATGCTCCGTTAGTCCCCTGCATGGCTTAATGTATTAGGTAA
CATGAAGCATGTAAGGAAGAACTTTCTAACACAGGTGCTGAAATGGGACAGGAAATGCTGATGG
AGTGAGCTCTTTGTCAATAGAAGTATTCAAGCAAA

hide sequence

RefSeq Acc Id:

NM_031466 ⟹ NP_113654

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,727,725 - 140,458,579 (-)	NCBI
GRCh37	8	140,740,324 - 141,468,678 (-)	NCBI
Build 36	8	140,811,770 - 141,537,860 (-)	NCBI Archive
Celera	8	136,910,795 - 137,637,626 (-)	RGD
HuRef	8	136,053,781 - 136,779,850 (-)	RGD
CHM1_1	8	140,780,169 - 141,509,239 (-)	NCBI
T2T-CHM13v2.0	8	140,847,842 - 141,578,742 (-)	NCBI

Sequence:

show sequence

AAAGTCGGGAGTGCCATGGTGCCAGCTGGGGATCAAGACCGCGCGCCACACAGGGGGAAGCCGG
CCCAGGCTGGGGCTCGCACCTCACGTGCCTCCCGGGCCCTGCGATCCTGGAGGCGCTCCCAGGC
CGCGCGCGCCACGGTCACCCACCCACGTGGGGGGCACGACCGTGGGAGTCACGGGGGGTACCGT
GAGGGTCACAGGGGGTGCCGCAGGGATCCACAGTGGGCTTCCGCGGGGCCTCCACCCCTGAGCT
TCACAGAGGAAGTGAAATTTGAGCTGCGCGCCCTGAAGGACTGGGACTTCAAAATGAGCGTCCC
TGACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATC
GTCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGC
GGGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTG
GGGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCC
AAGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGT
ATGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGT
GGCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAG
TCACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGA
TCCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACA
TTACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGG
ATGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACT
TTCTGTGGCTTGGAGCTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGG
TGGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCC
AATAGACACCGGCCAGGGGCACAGGAAGTTCTCATTGATCCAGGTGCCCTCACCACCAATGGCA
TCAACCCTGACACCAGTACTGAGATCGGACGTGCTAAGAACTGCCTTAGCCCTGAAGACATAAT
TGACAAGTATAAAGAGGCGATTTCCTATTACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTG
GAAGCGTGCATCAAGGCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAAT
TTCTTCAGAATGCAGTTTACATTAACCTTCGACAGCTTTCTGAGGAAGAGAAAATTCAGCGCTA
CAGCATCCTCTCCGAGCTCTATGAGCTGATCGGCTTCCATCGCAAGTCTGCGTTCTTCAAGCGC
GTGGCCGCCATGCAGTGCGTGGCCCCAAGCATCGCGGAGCCTGGGTGGAGGGCCTGCTACAAAC
TCCTCCTGGAAACGCTGCCCGGCTACAGTCTGTCGCTGGATCCCAAAGATTTCAGCAGAGGCAC
GCACAGAGGCTGGGCTGCGGTCCAGATGCGTTTGCTCCATGAATTGGTCTACGCCTCCCGAAGG
ATGGGGAACCCTGCCCTCTCTGTCAGACACCTGTCCTTCCTTCTACAGACCATGCTGGACTTCT
TGTCGGATCAGGAAAAGAAAGATGTGGCCCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGG
GACCATGGAGCCCATCGCCCTCCCTGGCGGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTT
CCCATCGTCAGGCATGTGAAACTATTGAACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAA
GCTTGCTGGGTCAGAACGTGTCAACCAAAAGTCCTTTCATCTATTCACCAATTATCGCACACAA
CCGTGGAGAAGAGCGGAACAAGAAAATAGATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTT
CAGCTGATGGTATATAACCCAATGCCGTTTGAACTTCGAGTTGAAAACATGGGGCTGCTCACCA
GCGGAGTGGAGTTCGAGTCTCTCCCTGCGGCGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCC
AGTGACGCTCGTCGGGGTCCCGCAGACGACTGGAACGATTACTGTGAACGGTTACCATACCACG
GTCTTCGGTGTGTTCAGTGACTGTTTGCTGGATAACCTGCCGGGAATAAAAACCAGTGGCTCCA
CAGTGGAAGTCATTCCCGCGTTGCCAAGACTGCAGATCAGCACCTCTCTGCCCAGATCTGCACA
TTCATTGCAACCTTCTTCTGGTGATGAAATATCTACTAATGTATCTGTCCAGCTTTACAATGGA
GAAAGTCAGCAACTAATCATTAAATTGGAAAATATTGGAATGGAACCATTGGAGAAACTGGAGG
TCACCTCGAAAGTTCTCACCACTAAAGAAAAATTGTATGGCGACTTCTTGAGCTGGAAGCTAGA
GGAAACCCTTGCCCAGTTCCCTTTGCAGCCTGGGAAGGTGGCCACGTTCACAATCAACATCAAA
GTGAAGCTGGATTTCTCCTGCCAGGAGAATCTCCTGCAGGATCTCAGTGATGATGGAATCAGTG
TGAGTGGCTTTCCCCTGTCCAGTCCTTTTCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACC
TGTGAACCCACCCGAGAGCAACAAAGCAGGCGACTACAGCCACGTGAAGACCCTGGAAGCTGTC
CTGAATTTCAAATACTCTGGAGGCCCGGGCCACACTGAAGGATATTACAGGAATCTCTCCCTGG
GGCTGCATGTAGAAGTCGAGCCGTCTGTATTTTTCACCCGAGTCAGCACCCTCCCAGCAACCAG
TACCCGGCAGTGTCACCTGCTCCTGGATGTCTTCAACTCCACCGAGCATGAGCTGACCGTCAGC
ACCAGGAGCAGCGAGGCACTCATCCTGCACGCCGGTGAGTGCCAGCGAATGGCTATTCAAGTGG
ACAAGTTCAACTTTGAGAGTTTCCCGGAGTCCCCTGGGGAGAAGGGGCAATTTGCAAACCCCAA
GCAGCTGGAGGAAGAGCGGCGGGAAGCCCGAGGCCTGGAGATCCACAGCAAGCTGGGCATCTGC
TGGAGAATCCCCTCCCTGAAGCGCAGTGGCGAGGCGAGTGTGGAAGGACTCCTGAACCAGCTCG
TCCTGGAGCACCTGCAGCTGGCGCCTCTGCAGTGGGATGTGCTGGTGGACGGACAGCCATGTGA
CCGCGAGGCTGTGGCGGCCTGCCAGGTGGGCGACCCCGTGCGCCTGGAGGTGCGGCTGACCAAC
CGGAGCCCGCGCAGCGTAGGGCCCTTCGCCCTCACTGTGGTCCCCTTCCAGGACCACCAGAACG
GCGTGCACAACTACGACCTGCACGACACCGTCTCCTTCGTGGGCTCCAGCACCTTCTACCTCGA
CGCGGTGCAGCCGTCCGGCCAGTCGGCCTGCCTCGGGGCCCTCCTCTTCCTCTACACGGGAGAC
TTCTTCCTCCACATCCGGTTCCACGAGGACAGCACCAGCAAGGAGCTGCCACCCTCTTGGTTCT
GCCTGCCCAGTGTGCACGTGTGTGCCCTGGAGGCGCAGGCCTGAGCCCGCCTACTTCCGTCCCT
CTTTCTGCAGGGCCAGAGGTGACCCTGCCTGGCCTCCCACACCCCCTGCAATGAGCAAGGCCTT
CACTGCAGCCCCATCTCCTCCTCCTCCCCCAGACCCCTCCCAGCCCTCTCCTCCTGTTCCTCCT
GTAGCATCTTTGCTGGGCTACGCAGAAGCCCCGGACATGGCAGCCCCACCCCATGCCACGCCCC
TTCCTACACTGTTCCCTGGACCATACACAGGCTGAAGCAGAGGAAATCCCAAAGCGGGTGCCCA
TCCAGCCCAGGTCCCAGGATCCCTGCACCCATTTCTGTGACCTGGGGCCCCAGCCGTGCTGTGC
TGCTCATCCCAGCAGAGGGACCTCCCTCGTCCAGCGACTTCCCTTTGGCCATAGAAAGAAATGG
TGAGCATGAGACTGGGCACAGCCTGAGGGCGTGGGCAGCTTCCCACCCTCCCTGGGCCTTGGAA
TCCCCCAAGGCTGGTTTTCTTCCTGGAGACCCCCATGGGCAACTTGGCAGGAGAGATGGTGCCG
TAGGAGGTCGTGGATGGTTGATGCCAAGAGAGGCCCTCCACCCGTGGTGGGCAAATGTCCAGGC
CTGGGCTGGCAGCCCAGGGCTGTTTCTGGGTGCTCCCTGGCCCCAGGGTGGCGTCTGGTTACCA
TGGCTGTGTGTGTCCATGTCTGCAAGCAGTTCTTCAATAAATGGCCTGCCTCCCCCTCCCTGCC
TCCCTGCATCTGCTAGCCCAGTGCAGTCCGGGGCCCCCACCCAGCCCGTCAGCCCCCACCTCAG
GTGGCTGGCTTCCCAGCAGAAGCCGGACCCAGGAAGGGACGGGTTCTGAGTTAGAGATCTCACA
TAAGCAAACGCTGAGACAGGAATCTGGTCACCAGCAGCTTGTCTGGGAGGTGGAAGGAGGCCTG
CAGGGGAGGGAGATCACCAGTGAAGGAGTGTGACTGGGCCCGAGCTGCCGCCACAGTGGGCAGC
TGGCCCTGCGTTCCTCAGGGAGGACCGGAGAGAGAAAGCACACGGCTCACATCTCCCTTGAGGG
CCAGAGCTGGGGTGTGTCTACACTACCCACAAGAGTCCTGTTCTGGGGGCAGGCTTCTGGCTGT
GTTGACCCTTAGCTCCCCAGGTCCCAGGGAGGATAAACAGCCCTTGGTCCCCAGCAGATACCAG
GCTCGTCAGGTGCCCGTTGGGCACTGAAACTCCCATGGAGTATTGGGGGACAGAGAGCGGGGCT
TCCTAAAGGCCAGTTGGCCAAACAGGCAGAGCCAGGAAGTGGCTGCCCTGGCCTCCCATGGGGC
AGAGTCATGTTGGCATCAGGAGGCCTGCGGGGCTGAGGGAACTTCCTGAGGACCTGAAGTCCCA
GGCCCAAACCTCCCTCGCTGGGAGCAAGGTCACCCTGTGGCCTCCGGCCTAAGGAACAAATTTT
TTGTTCCATCTGTGGCCTCCTGTTGTCGCTCAGTGAATGATGGGAGCACACTGTGATGTGGTGT
GGGCTGGGGGCATGTGGGGGCGGGTGTCCAGTGGCCCTCAGTTCCTGGAGCTCATTCAGCATCT
GCTCGAGGCTCCCCAGGGAAGGCAGCCCCAGAAGGTCTGGCTGCAGTAGGGGGTGGAGACCCCA
GGGCGGTCTCTTCAGCCCTTCCGTTCAGGATGCCTCAGCGTAGTTGAGGGCCTGGCCACCTGGG
CTGTTTCTGAATGGAACAAACAGCATCCATGTGTGTCAACCTCAACAGAGCCCAAAAATACGCC
ATTGAATGAAACAACACATTGCAGGATGATGGGCTCAGCCCAACCTCACTTGTGTAGACAATGT
CCCCCCAAATTATAAATTTTCTATGCCTCAGAACGTGTCTATAACAACATGTTTAAAAGGTAGA
AAGGATACACATCCCCTGTAGAAGAGTGACCTGAACTGGAGTTGCATTTGACATCTGATGTCAG
CATGAGGGTGCTGGTCACCGGGGACTTGAGTACGTACTTTCCTTTCAAAAGCACAATAGATCAA
GATACAGGTACACACATAGCTACAGATATAGATCCAGCCACAGATCCAGATTAGATATAGATGC
ATATAGAAGCCTAGAAAAGCCAATATGGAAAACTCTGGCAGTGTTTGATTCTGAGTGGCAAGCA
TATTGGTGACTGTAATTATTTCTTGCAGTTTTCTATATTTTTTAGTTTCCCAAACTGCAAAAAA
TACCCACAACAGTTACCAGAGAAAATGCTGGATGCCACAAGAAGGAAGAACCTCAAGGGGCAGG
AGGCAAAGTTGTCTTCTTGGAGGAGGGGGTGTTAGAAATAACCCAGGCCTCCTGGAAAATGACC
CAAATACAGCCTGGCTCTGCCAGCCCCAGGCCCTTCCCCACCCCCAGGGCACCCTTTCTGTCCC
AGTAGAGAAGGTGACCTGGAGTCAGGCCTTGTGTGTGCTCCAAGCGTTTGGAGCTTTACCGTGG
GATGTGGGGAGCCAGGGGTGTTGTTTGCTGGCATTTCTGTGGCTGGGTCTTTCTGGCTGTGGAG
CTGTGTTTGTGGGCAGTGGCTGAGATGGAGGACCTGGGGCAGGTGTCTCAGTGACAGCGCAGTA
TCCTCCAGCCTCTTCCAGGGCCCCACGCTACTGGCTACCTGGCAATACAGTCCAGCAGTTGCTG
CTTCTCTAGGCCCCTGGTGCATTCAGAAACCTCCTGAAGGCCAGCGGAGGGTAAGCCAGGAACA
GATCATGTCCATTGCACTTCACTAGCTGAGCGAGTTGGTTCTGCCCTTCTGATCCTTGGTCCCT
CAGGGCCAGGACAGGCCCGGTGACCCCATAATCATGCAGCCGTCATGCTCCGTCATCTGAAATT
CACAAGGAAGGCAAGGATTCAAAGGAAGATGTCTGAGATGCTGAACTCCAGCTCAGCCACTTGT
CAACTCCTTGACCTTGGACAAGTTACTTAAATTAAGCCTTGATTTTTTTTCATCTGAATAAATA
GAGATAAAAATACTTATTTCATGGACACTTTCATATCAGTTTATTTGATTTAACCTCCTAGATT
TTTTTTTAGCACATGATAGCAACTTCTTAATAAATACTGGGTCCCTTCTCCTAGCCTTCCCATT
GCTGTTCTTTTTAATTCCATCCACATGTCCTGTGCCTGAAATATCCTGTGCCATGTGCCTGAAA
TTCCATTCTTCTCCTGGAACCCTTAACAGGCCACATTGCTATGCTCCGTTAGTCCCCTGCATGG
CTTAATGTATTAGGTAACATGAAGCATGTAAGGAAGAACTTTCTAACACAGGTGCTGAAATGGG
ACAGGAAATGCTGATGGAGTGAGCTCTTTGTCAATAGAAGTATTCAAGCAAA

hide sequence

RefSeq Acc Id:

NR_164662

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,727,725 - 140,457,744 (-)	NCBI
T2T-CHM13v2.0	8	140,847,842 - 141,577,907 (-)	NCBI

Sequence:

show sequence

AGTAGGAAGCGCCAGCCCAGAGCCTGGGAAGTGGCCGCAGAGGCTGCTCGGCCCCGCTGCCCGC
CAGGTCGTGGGCTCCCGCTCCGGGCCCGGGGCCACCGGCTGTGGACTTCAAAATGAGCGTCCCT
GACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATCG
TCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGCG
GGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTGG
GGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCCA
AGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGTA
TGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGTG
GCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAGT
CACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGAT
CCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACAT
TACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGGA
TGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACTT
TCTGTGGCTTGGAGCTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGGT
GGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCCA
ATAGACACCGGCCAGGTGCCCTCACCACCAATGGCATCAACCCTGACACCAGTACTGAGATCGG
ACGTGCTAAGAACTGCCTTAGCCCTGAAGACATAATTGACAAGTATAAAGAGGCGATTTCCTAT
TACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTGGAAGCGTGCATCAAGGCTGTACGTGTCC
TTGCAATTCAGAAACGGAGCATGGAAGCATCAGAATTTCTTCAGAATGCAGTTTACATTAACCT
TCGACAGCTTTCTGAGGAAGAGAAAATTCAGCGCTACAGCATCCTCTCCGAGCTCTATGAGCTG
ATCGGCTTCCATCGCAAGTCTGCGTTCTTCAAGCGCGTGGCCGCCATGCAGTGCGTGGCCCCAA
GCATCGCGGAGCCTGGGTGGAGGGCCTGCTACAAACTCCTCCTGGAAACGCTGCCCGGCTACAG
TCTGTCGCTGGATCCCAAAGATTTCAGCAGAGGCACGCACAGAGGCTGGGCTGCGGTCCAGATG
CGTTTGCTCCATGAATTGGTCTACGCCTCCCGAAGGATGGGGAACCCTGCCCTCTCTGTCAGAC
ACCTGTCCTTCCTTCTACAGACCATGCTGGACTTCTTGTCGGATCAGGAAAAGAAAGATGTGGC
CCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGGGACCATGGAGCCCATCGCCCTCCCTGGC
GGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTTCCCATCGTCAGGCATGTGAAACTATTGA
ACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAAGCTTGCTGGGTCAGAACGTGTCAACCAA
AAGTCCTTTCATCTATTCACCAATTATCGCACACAACCGTGGAGAAGAGCGGAACAAGAAAATA
GATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTTCAGCTGATGGTATATAACCCAATGCCGT
TTGAACTTCGAGTTGAAAACATGGGGCTGCTCACCAGCGGAGTGGAGTTCGAGTCTCTCCCTGC
GGCGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCCAGTGACGCTCGTCGGGGTCCCGCAGACG
ACTGGAACGATTACTGTGAACGGTTACCATACCACGGTCTTCGGTGTGTTCAGTGACTGTTTGC
TGGATAACCTGCCGGGAATAAAAACCAGTGGCTCCACAGTGGAAGTCATTCCCGCGTTGCCAAG
ACTGCAGATCAGCACCTCTCTGCCCAGATCTGCACATTCATTGCAACCTTCTTCTGGTGATGAA
ATATCTACTAATGTATCTGTCCAGCTTTACAATGGAGAAAGTCAGCAACTAATCATTAAATTGG
AAAATATTGGAATGGAACCATTGGAGAAACTGGAGGTCACCTCGAAAGTTCTCACCACTAAAGA
AAAATTGTATGGCGACTTCTTGAGCTGGAAGCTAGAGGAAACCCTTGCCCAGTTCCCTTTGCAG
CCTGGGAAGGTGGCCACGTTCACAATCAACATCAAAGTGAAGCTGGATTTCTCCTGCCAGGAGA
ATCTCCTGCAGGATCTCAGTGATGATGGAATCAGTGTGAGTGGCTTTCCCCTGTCCAGTCCTTT
TCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACCTGTGAACCCACCCGAGAGCAACAAAGCA
GGCGACTACAGCCACGTGAAGACCCTGGAAGCTGTCCTGAATTTCAAATACTCTGGAGGCCCGG
GCCACACTGAAGGATATTACAGGAATCTCTCCCTGGGGCTGCATGTAGAAGTCGAGCCGTCTGT
ATTTTTCACCCGAGTCAGCACCCTCCCAGCAACCAGTACCCGGCAGTGTCACCTGCTCCTGGAT
GTCTTCAACTCCACCGAGCATGAGCTGACCGTCAGCACCAGGAGCAGCGAGGCACTCATCCTGC
ACGCCGGTGAGTGCCAGCGAATGGCTATTCAAGTGGACAAGTTCAACTTTGAGAGTTTCCCGGA
GTCCCCTGGGGAGAAGGGGCAATTTGCAAACCCCAAGCAGCTGGAGGAAGAGCGGCGGGAAGCC
CGAGGCCTGGAGATCCACAGCAAGCTGGGCATCTGCTGGAGAATCCCCTCCCTGAAGCGCAGTG
GCGAGGCGAGTGTGGAAGGACTCCTGAACCAGCTCGTCCTGGAGCACCTGCAGCTGGCGCCTCT
GCAGTGGGGTGACCATTTGATCTCCGGGAGCCCTGGCTCCCTCGCTTGGAACAGGAGCCACAGC
TGCCGCGTGGGATGATGATGTGCTGGTGGACGGACAGCCATGTGACCGCGAGGCTGTGGCGGCC
TGCCAGGTGGGCGACCCCGTGCGCCTGGAGGTGCGGCTGACCAACCGGAGCCCGCGCAGCGTAG
GGCCCTTCGCCCTCACTGTGGTCCCCTTCCAGGACCACCAGAACGGCGTGCACAACTACGACCT
GCACGACACCGTCTCCTTCGTGGGCTCCAGCACCTTCTACCTCGACGCGGTGCAGCCGTCCGGC
CAGTCGGCCTGCCTCGGGGCCCTCCTCTTCCTCTACACGGGAGACTTCTTCCTCCACATCCGGT
TCCACGAGGACAGCACCAGCAAGGAGCTGCCACCCTCTTGGTTCTGCCTGCCCAGTGTGCACGT
GTGTGCCCTGGAGGCGCAGGCCTGAGCCCGCCTACTTCCGTCCCTCTTTCTGCAGGGCCAGAGG
TGACCCTGCCTGGCCTCCCACACCCCCTGCAATGAGCAAGGCCTTCACTGCAGCCCCATCTCCT
CCTCCTCCCCCAGACCCCTCCCAGCCCTCTCCTCCTGTTCCTCCTGTAGCATCTTTGCTGGGCT
ACGCAGAAGCCCCGGACATGGCAGCCCCACCCCATGCCACGCCCCTTCCTACACTGTTCCCTGG
ACCATACACAGGCTGAAGCAGAGGAAATCCCAAAGCGGGTGCCCATCCAGCCCAGGTCCCAGGA
TCCCTGCACCCATTTCTGTGACCTGGGGCCCCAGCCGTGCTGTGCTGCTCATCCCAGCAGAGGG
ACCTCCCTCGTCCAGCGACTTCCCTTTGGCCATAGAAAGAAATGGTGAGCATGAGACTGGGCAC
AGCCTGAGGGCGTGGGCAGCTTCCCACCCTCCCTGGGCCTTGGAATCCCCCAAGGCTGGTTTTC
TTCCTGGAGACCCCCATGGGCAACTTGGCAGGAGAGATGGTGCCGTAGGAGGTCGTGGATGGTT
GATGCCAAGAGAGGCCCTCCACCCGTGGTGGGCAAATGTCCAGGCCTGGGCTGGCAGCCCAGGG
CTGTTTCTGGGTGCTCCCTGGCCCCAGGGTGGCGTCTGGTTACCATGGCTGTGTGTGTCCATGT
CTGCAAGCAGTTCTTCAATAAATGGCCTGCCTCCCCCTCCCTGCCTCCCTGCATCTGCTAGCCC
AGTGCAGTCCGGGGCCCCCACCCAGCCCGTCAGCCCCCACCTCAGGTGGCTGGCTTCCCAGCAG
AAGCCGGACCCAGGAAGGGACGGGTTCTGAGTTAGAGATCTCACATAAGCAAACGCTGAGACAG
GAATCTGGTCACCAGCAGCTTGTCTGGGAGGTGGAAGGAGGCCTGCAGGGGAGGGAGATCACCA
GTGAAGGAGTGTGACTGGGCCCGAGCTGCCGCCACAGTGGGCAGCTGGCCCTGCGTTCCTCAGG
GAGGACCGGAGAGAGAAAGCACACGGCTCACATCTCCCTTGAGGGCCAGAGCTGGGGTGTGTCT
ACACTACCCACAAGAGTCCTGTTCTGGGGGCAGGCTTCTGGCTGTGTTGACCCTTAGCTCCCCA
GGTCCCAGGGAGGATAAACAGCCCTTGGTCCCCAGCAGATACCAGGCTCGTCAGGTGCCCGTTG
GGCACTGAAACTCCCATGGAGTATTGGGGGACAGAGAGCGGGGCTTCCTAAAGGCCAGTTGGCC
AAACAGGCAGAGCCAGGAAGTGGCTGCCCTGGCCTCCCATGGGGCAGAGTCATGTTGGCATCAG
GAGGCCTGCGGGGCTGAGGGAACTTCCTGAGGACCTGAAGTCCCAGGCCCAAACCTCCCTCGCT
GGGAGCAAGGTCACCCTGTGGCCTCCGGCCTAAGGAACAAATTTTTTGTTCCATCTGTGGCCTC
CTGTTGTCGCTCAGTGAATGATGGGAGCACACTGTGATGTGGTGTGGGCTGGGGGCATGTGGGG
GCGGGTGTCCAGTGGCCCTCAGTTCCTGGAGCTCATTCAGCATCTGCTCGAGGCTCCCCAGGGA
AGGCAGCCCCAGAAGGTCTGGCTGCAGTAGGGGGTGGAGACCCCAGGGCGGTCTCTTCAGCCCT
TCCGTTCAGGATGCCTCAGCGTAGTTGAGGGCCTGGCCACCTGGGCTGTTTCTGAATGGAACAA
ACAGCATCCATGTGTGTCAACCTCAACAGAGCCCAAAAATACGCCATTGAATGAAACAACACAT
TGCAGGATGATGGGCTCAGCCCAACCTCACTTGTGTAGACAATGTCCCCCCAAATTATAAATTT
TCTATGCCTCAGAACGTGTCTATAACAACATGTTTAAAAGGTAGAAAGGATACACATCCCCTGT
AGAAGAGTGACCTGAACTGGAGTTGCATTTGACATCTGATGTCAGCATGAGGGTGCTGGTCACC
GGGGACTTGAGTACGTACTTTCCTTTCAAAAGCACAATAGATCAAGATACAGGTACACACATAG
CTACAGATATAGATCCAGCCACAGATCCAGATTAGATATAGATGCATATAGAAGCCTAGAAAAG
CCAATATGGAAAACTCTGGCAGTGTTTGATTCTGAGTGGCAAGCATATTGGTGACTGTAATTAT
TTCTTGCAGTTTTCTATATTTTTTAGTTTCCCAAACTGCAAAAAATACCCACAACAGTTACCAG
AGAAAATGCTGGATGCCACAAGAAGGAAGAACCTCAAGGGGCAGGAGGCAAAGTTGTCTTCTTG
GAGGAGGGGGTGTTAGAAATAACCCAGGCCTCCTGGAAAATGACCCAAATACAGCCTGGCTCTG
CCAGCCCCAGGCCCTTCCCCACCCCCAGGGCACCCTTTCTGTCCCAGTAGAGAAGGTGACCTGG
AGTCAGGCCTTGTGTGTGCTCCAAGCGTTTGGAGCTTTACCGTGGGATGTGGGGAGCCAGGGGT
GTTGTTTGCTGGCATTTCTGTGGCTGGGTCTTTCTGGCTGTGGAGCTGTGTTTGTGGGCAGTGG
CTGAGATGGAGGACCTGGGGCAGGTGTCTCAGTGACAGCGCAGTATCCTCCAGCCTCTTCCAGG
GCCCCACGCTACTGGCTACCTGGCAATACAGTCCAGCAGTTGCTGCTTCTCTAGGCCCCTGGTG
CATTCAGAAACCTCCTGAAGGCCAGCGGAGGGTAAGCCAGGAACAGATCATGTCCATTGCACTT
CACTAGCTGAGCGAGTTGGTTCTGCCCTTCTGATCCTTGGTCCCTCAGGGCCAGGACAGGCCCG
GTGACCCCATAATCATGCAGCCGTCATGCTCCGTCATCTGAAATTCACAAGGAAGGCAAGGATT
CAAAGGAAGATGTCTGAGATGCTGAACTCCAGCTCAGCCACTTGTCAACTCCTTGACCTTGGAC
AAGTTACTTAAATTAAGCCTTGATTTTTTTTCATCTGAATAAATAGAGATAAAAATACTTATTT
CATGGACACTTTCATATCAGTTTATTTGATTTAACCTCCTAGATTTTTTTTTAGCACATGATAG
CAACTTCTTAATAAATACTGGGTCCCTTCTCCTAGCCTTCCCATTGCTGTTCTTTTTAATTCCA
TCCACATGTCCTGTGCCTGAAATATCCTGTGCCATGTGCCTGAAATTCCATTCTTCTCCTGGAA
CCCTTAACAGGCCACATTGCTATGCTCCGTTAGTCCCCTGCATGGCTTAATGTATTAGGTAACA
TGAAGCATGTAAGGAAGAACTTTCTAACACAGGTGCTGAAATGGGACAGGAAATGCTGATGGAG
TGAGCTCTTTGTCAATAGAAGTATTCAAGCAAA

hide sequence

RefSeq Acc Id:

XM_011517326 ⟹ XP_011515628

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,727,725 - 140,458,579 (-)	NCBI

Sequence:

show sequence

AAAGTCGGGAGTGCCATGGTGCCAGCTGGGGATCAAGACCGCGCGCCACACAGGGGGAAGCCGG
CCCAGGCTGGGGCTCGCACCTCACGTGCCTCCCGGGCCCTGCGATCCTGGAGGCGCTCCCAGGC
CGCGCGCGCCACGGTCACCCACCCACGTGGGGGGCACGACCGTGGGAGTCACGGGGGGTACCGT
GAGGGTCACAGGGGGTGCCGCAGGGATCCACAGTGGGCTTCCGCGGGGCCTCCACCCCTGAGCT
TCACAGAGGAAGTGAAATTTGAGCTGCGCGCCCTGAAGGACTGGGACTTCAAAATGAGCGTCCC
TGACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATC
GTCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGC
GGGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTG
GGGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCC
AAGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGT
ATGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGT
GGCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAG
TCACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGA
TCCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACA
TTACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGG
ATGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACT
TTCTGTGGCTTGGAGCTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGG
TGGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCC
AATAGACACCGGCCAGGTGCCCTCACCACCAATGGCATCAACCCTGACACCAGTACTGAGATCG
GACGTGCTAAGAACTGCCTTAGCCCTGAAGACATAATTGACAAGTATAAAGAGGCGATTTCCTA
TTACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTGGAAGCGTGCATCAAGGCTGTACGTGTC
CTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAATTTCTTCAGAATGCAGTTTACATTAACC
TTCGACAGCTTTCTGAGGAAGAGAAAATTCAGCGCTACAGCATCCTCTCCGAGCTCTATGAGCT
GATCGGCTTCCATCGCAAGTCTGCGTTCTTCAAGCGCGTGGCCGCCATGCAGTGCGTGGCCCCA
AGCATCGCGGAGCCTGGGTGGAGGGCCTGCTACAAACTCCTCCTGGAAACGCTGCCCGGCTACA
GTCTGTCGCTGGATCCCAAAGATTTCAGCAGAGGCACGCACAGAGGCTGGGCTGCGGTCCAGAT
GCGTTTGCTCCATGAATTGGTCTACGCCTCCCGAAGGATGGGGAACCCTGCCCTCTCTGTCAGA
CACCTGTCCTTCCTTCTACAGACCATGCTGGACTTCTTGTCGGATCAGGAAAAGAAAGATGTGG
CCCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGGGACCATGGAGCCCATCGCCCTCCCTGG
CGGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTTCCCATCGTCAGGCATGTGAAACTATTG
AACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAAGCTTGCTGGGTCAGAACGTGTCAACCA
AAAGTCCTTTCATCTATTCACCAATTATCGCACACAACCGTGGAGAAGAGCGGAACAAGAAAAT
AGATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTTCAGCTGATGGTATATAACCCAATGCCG
TTTGAACTTCGAGTTGAAAACATGGGGCTGCTCACCAGCGGAGTGGAGTTCGAGTCTCTCCCTG
CGGCGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCCAGTGACGCTCGTCGGGGTCCCGCAGAC
GACTGGAACGATTACTGTGAACGGTTACCATACCACGGTCTTCGGTGTGTTCAGTGACTGTTTG
CTGGATAACCTGCCGGGAATAAAAACCAGTGGCTCCACAGTGGAAGTCATTCCCGCGTTGCCAA
GACTGCAGATCAGCACCTCTCTGCCCAGATCTGCACATTCATTGCAACCTTCTTCTGGTGATGA
AATATCTACTAATGTATCTGTCCAGCTTTACAATGGAGAAAGTCAGCAACTAATCATTAAATTG
GAAAATATTGGAATGGAACCATTGGAGAAACTGGAGGTCACCTCGAAAGTTCTCACCACTAAAG
AAAAATTGTATGGCGACTTCTTGAGCTGGAAGCTAGAGGAAACCCTTGCCCAGTTCCCTTTGCA
GCCTGGGAAGGTGGCCACGTTCACAATCAACATCAAAGTGAAGCTGGATTTCTCCTGCCAGGAG
AATCTCCTGCAGGATCTCAGTGATGATGGAATCAGTGTGAGTGGCTTTCCCCTGTCCAGTCCTT
TTCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACCTGTGAACCCACCCGAGAGCAACAAAGC
AGGCGACTACAGCCACGTGAAGACCCTGGAAGCTGTCCTGAATTTCAAATACTCTGGAGGCCCG
GGCCACACTGAAGGATATTACAGGAATCTCTCCCTGGGGCTGCATGTAGAAGTCGAGCCGTCTG
TATTTTTCACCCGAGTCAGCACCCTCCCAGCAACCAGTACCCGGCAGTGTCACCTGCTCCTGGA
TGTCTTCAACTCCACCGAGCATGAGCTGACCGTCAGCACCAGGAGCAGCGAGGCACTCATCCTG
CACGCCGGTGAGTGCCAGCGAATGGCTATTCAAGTGGACAAGTTCAACTTTGAGAGTTTCCCGG
AGTCCCCTGGGGAGAAGGGGCAATTTGCAAACCCCAAGCAGCTGGAGGAAGAGCGGCGGGAAGC
CCGAGGCCTGGAGATCCACAGCAAGCTGGGCATCTGCTGGAGAATCCCCTCCCTGAAGCGCAGT
GGCGAGGCGAGTGTGGAAGGACTCCTGAACCAGCTCGTCCTGGAGCACCTGCAGCTGGCGCCTC
TGCAGTGGGATGTGCTGGTGGACGGACAGCCATGTGACCGCGAGGCTGTGGCGGCCTGCCAGGT
GGGCGACCCCGTGCGCCTGGAGGTGCGGCTGACCAACCGGAGCCCGCGCAGCGTAGGGCCCTTC
GCCCTCACTGTGGTCCCCTTCCAGGACCACCAGAACGGCGTGCACAACTACGACCTGCACGACA
CCGTCTCCTTCGTGGGCTCCAGCACCTTCTACCTCGACGCGGTGCAGCCGTCCGGCCAGTCGGC
CTGCCTCGGGGCCCTCCTCTTCCTCTACACGGGAGACTTCTTCCTCCACATCCGGTTCCACGAG
GACAGCACCAGCAAGGAGCTGCCACCCTCTTGGTTCTGCCTGCCCAGTGTGCACGTGTGTGCCC
TGGAGGCGCAGGCCTGAGCCCGCCTACTTCCGTCCCTCTTTCTGCAGGGCCAGAGGTGACCCTG
CCTGGCCTCCCACACCCCCTGCAATGAGCAAGGCCTTCACTGCAGCCCCATCTCCTCCTCCTCC
CCCAGACCCCTCCCAGCCCTCTCCTCCTGTTCCTCCTGTAGCATCTTTGCTGGGCTACGCAGAA
GCCCCGGACATGGCAGCCCCACCCCATGCCACGCCCCTTCCTACACTGTTCCCTGGACCATACA
CAGGCTGAAGCAGAGGAAATCCCAAAGCGGGTGCCCATCCAGCCCAGGTCCCAGGATCCCTGCA
CCCATTTCTGTGACCTGGGGCCCCAGCCGTGCTGTGCTGCTCATCCCAGCAGAGGGACCTCCCT
CGTCCAGCGACTTCCCTTTGGCCATAGAAAGAAATGGTGAGCATGAGACTGGGCACAGCCTGAG
GGCGTGGGCAGCTTCCCACCCTCCCTGGGCCTTGGAATCCCCCAAGGCTGGTTTTCTTCCTGGA
GACCCCCATGGGCAACTTGGCAGGAGAGATGGTGCCGTAGGAGGTCGTGGATGGTTGATGCCAA
GAGAGGCCCTCCACCCGTGGTGGGCAAATGTCCAGGCCTGGGCTGGCAGCCCAGGGCTGTTTCT
GGGTGCTCCCTGGCCCCAGGGTGGCGTCTGGTTACCATGGCTGTGTGTGTCCATGTCTGCAAGC
AGTTCTTCAATAAATGGCCTGCCTCCCCC

hide sequence

RefSeq Acc Id:

XM_011517328 ⟹ XP_011515630

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,884,995 - 140,458,579 (-)	NCBI

Sequence:

show sequence

AAAGTCGGGAGTGCCATGGTGCCAGCTGGGGATCAAGACCGCGCGCCACACAGGGGGAAGCCGG
CCCAGGCTGGGGCTCGCACCTCACGTGCCTCCCGGGCCCTGCGATCCTGGAGGCGCTCCCAGGC
CGCGCGCGCCACGGTCACCCACCCACGTGGGGGGCACGACCGTGGGAGTCACGGGGGGTACCGT
GAGGGTCACAGGGGGTGCCGCAGGGATCCACAGTGGGCTTCCGCGGGGCCTCCACCCCTGAGCT
TCACAGAGGAAGTGAAATTTGAGCTGCGCGCCCTGAAGGACTGGGACTTCAAAATGAGCGTCCC
TGACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATC
GTCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGC
GGGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTG
GGGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCC
AAGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGT
ATGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGT
GGCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAG
TCACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGA
TCCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACA
TTACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGG
ATGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACT
TTCTGTGGCTTGGAGCTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGG
TGGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCC
AATAGACACCGGCCAGGGGCACAGGAAGTTCTCATTGATCCAGGTGCCCTCACCACCAATGGCA
TCAACCCTGACACCAGTACTGAGATCGGACGTGCTAAGAACTGCCTTAGCCCTGAAGACATAAT
TGACAAGTATAAAGAGGCGATTTCCTATTACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTG
GAAGCGTGCATCAAGGCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAAT
TTCTTCAGAATGCAGTTTACATTAACCTTCGACAGCTTTCTGAGGAAGAGAAAATTCAGCGCTA
CAGCATCCTCTCCGAGCTCTATGAGCTGATCGGCTTCCATCGCAAGTCTGCGTTCTTCAAGCGC
GTGGCCGCCATGCAGTGCGTGGCCCCAAGCATCGCGGAGCCTGGGTGGAGGGCCTGCTACAAAC
TCCTCCTGGAAACGCTGCCCGGCTACAGTCTGTCGCTGGATCCCAAAGATTTCAGCAGAGGCAC
GCACAGAGGCTGGGCTGCGGTCCAGATGCGTTTGCTCCATGAATTGGTCTACGCCTCCCGAAGG
ATGGGGAACCCTGCCCTCTCTGTCAGACACCTGTCCTTCCTTCTACAGACCATGCTGGACTTCT
TGTCGGATCAGGAAAAGAAAGATGTGGCCCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGG
GACCATGGAGCCCATCGCCCTCCCTGGCGGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTT
CCCATCGTCAGGCATGTGAAACTATTGAACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAA
GCTTGCTGGGTCAGAACGTGTCAACCAAAAGTCCTTTCATCTATTCACCAATTATCGCACACAA
CCGTGGAGAAGAGCGGAACAAGAAAATAGATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTT
CAGCTGATGGTATATAACCCAATGCCGTTTGAACTTCGAGTTGAAAACATGGGGCTGCTCACCA
GCGGAGTGGAGTTCGAGTCTCTCCCTGCGGCGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCC
AGTGACGCTCGTCGGGGTCCCGCAGACGACTGGAACGATTACTGTGAACGGTTACCATACCACG
GTCTTCGGTGTGTTCAGTGACTGTTTGCTGGATAACCTGCCGGGAATAAAAACCAGTGGCTCCA
CAGTGGAAGTCATTCCCGCGTTGCCAAGACTGCAGATCAGCACCTCTCTGCCCAGATCTGCACA
TTCATTGCAACCTTCTTCTGGTGATGAAATATCTACTAATGTATCTGTCCAGCTTTACAATGGA
GAAAGTCAGCAACTAATCATTAAATTGGAAAATATTGGAATGGAACCATTGGAGAAACTGGAGG
TCACCTCGAAAGTTCTCACCACTAAAGAAAAATTGTATGGCGACTTCTTGAGCTGGAAGCTAGA
GGAAACCCTTGCCCAGTTCCCTTTGCAGCCTGGGAAGGTGGCCACGTTCACAATCAACATCAAA
GTGAAGCTGGATTTCTCCTGCCAGGAGAATCTCCTGCAGGATCTCAGTGATGATGGAATCAGTG
TGAGTGGCTTTCCCCTGTCCAGTCCTTTTCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACC
TGTGAACCCACCCGAGAGCAACAAAGCAGGCGACTACAGCCACGTGAAGACCCTGGAAGCTGTC
CTGAATTTCAAATACTCTGGAGGCCCGGGCCACACTGAAGGATATTACAGGAATCTCTCCCTGG
GGCTGCATGTAGAAGTCGAGCCGTCTGTATTTTTCACCCGAGTCAGCACCCTCCCAGCAACCAG
TACCCGGCAGTGTCACCTGCTCCTGGATGTCTTCAACTCCACCGAGCATGAGCTGACCGTCAGC
ACCAGGAGCAGCGAGGCACTCATCCTGCACGCCGGTGAGTGCCAGCGAATGGCTATTCAAGTGG
ACAAGTTCAACTTTGAGAGTTTCCCGGAGTCCCCTGGGGAGAAGGGGCAATTTGCAAACCCCAA
GCAGCTGGAGGAAGAGCGGCGGGAAGCCCGAGGCCTGGAGATCCACAGCAAGCTGGGCATCTGC
TGGAGAATCCCCTCCCTGAAGCGCAGTGGCGAGGCGAGTGTGGAAGGACTCCTGAACCAGCTCG
TCCTGGAGCACCTGCAGCTGGCGCCTCTGCAGTGGGGCGGGCAGCTCAGCACTCCGGTGACAGT
GCAGACATGAGAAGGGCTCATCGCCCGTTGAAACAGGTGCAGCAGGCGGATCTTGGCCTACATC
TTGACTTGCACTTGGTGTAGAGTGGGCCGTCTTCCGAAATGGCAATTGACTGTGTCTGGCGGGG
TGTGTGCTCTGCAACTGTTTCCAGAACTGAGAGTGGCTTGGGATGGCAAAAGAGAACAGGGTGT
GGTGAACCCCTTGCGTTCACCCCACTCACCACGACTATGCATGGACAGCTTTTCATGCTGTCTG
TGTGGAAAATTGTTTGGTTTGTAAATGCCTCAACTCAACGTTGTGTTCAACCCCAAGAGAACGC
CATTACTGGACACTTAGCACAGTTTATTTGACTGCTTCTTCTTGTTGCACCTGGGAACTTCCAC
CCTACACTGTGCCTTTCTACATTGAACTCAAAAATATTTTGCTGAGAAACAAGCTTAGCATTTC
TTTTGAAGTGAGAATCTTTATTATCTGGAAATTATTTAATCAGCTCATCTATTTTGGATCCCCT
GCAGACAGTCAGTTGCAAGCATACATATCCCCTTTCTTCCTCTTCTTTACCCAAGAGGTCATTG
TGAATGAGTAGCTCCTCTTTGATCCAGGATCCGGTTCATTAATAAATTTGTTCTGCCCCTTTCA
TGGGCTAGAGACACATGGAAATGATTCCAGTGGTGTGAGGAGAAAACAAGCCTTTCTCCTTGCA
CTCCACCAGCGCCCTTCAGCCTGGAGACCCCCTGATCCTGCAGAGGCTGCCTCCTGGCTCCTCA
CAGGTGAAAGCTGTCGGGACCAGGTGGGCACCGTCATGGCGGCTATGGGTTTCCATTTTACACT
CGGGCTCCTTCTGTGGCCTCTTCCTCCTCTCTGAGCCAGCCTGAGTGGCAGGAAGGAAAGGCTT
GGTGTTTCTGCAGAGGGTTTCACAGTTTGGTTCTCTGGAGGCTTCCCTGTAGCCCAGCCACTTT
TCTAGGTGGGAATGTCCTATCTATCTCCTGATGACCTGAGCACAGTCAGCCGTGTCCCTAGACT
CAGATAGCTGAGCCGGGAAAGACATCTGGGCCCCCCTGGCCGTGAGATGGGGTCAGGCCCAGGG
GGATTAGCTGTATTTTATCTGTTGCCAGAGGAGATTCCACCAGGTAGCTATGCAGGACTTTCAT
GGGGCAAATGAGCGAAGGGAGGGCCACAGGCAGAACAGGGGCCCAAGAGCAAAGAACAGAGTGA
CTTGGGGTGGGGAAGTGGGCAGCAGGTGGGCTCCTCCCTTCTGTCTGAGGGTCGGCAGCCCTAG
CCCCAGGTAAGGGTTTTGAGATGGCTTGGGGGCCTTTGTTTGGGTAGGTGACCAACGGGGCACC
CAGGAGCAGAGCCCTGGGGGAGAGGTTCTGATGGTACAAGGCTGAGCGGGGAGAAGTCCCTGCA
GTCTGGAAACAATGCCCTTCCCAGGGCACGAACTGCCCTTGACACTGTTCTAGGTGGGCCCTAA
GGGTAGGGAGGGTTCTGGAATTGGAGAGGCACAGGACAGAGAAGAGGGATTTATGGTGTGCCAG
ACACGTTTACAAATGTCGATTCACTTTGATTCTGAGCCTCAGAGCAATGTGTGAGGTCGCCATG
GGAGAGGTCCATGC

hide sequence

RefSeq Acc Id:

XM_011517330 ⟹ XP_011515632

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,727,725 - 140,347,924 (-)	NCBI

Sequence:

show sequence

TGAACCTGGAACAATTTCAAAACAGCCTTTGACCAGAGGACTTATGGAAAAGGAAGAAGTACCA
CCTGGAAAATTATGAGACAGCTATAAAAATCACTGTATTCATAACAGTTCTAGAGACATACATG
TACACCATCAAAGAGAAATTATTCCGACACTTGTTAAAATGAAAAGAAAGATGTGGCCCAAAGC
CTAGAGAACTATACGTCCAAGTGTCCTGGGACCATGGAGCCCATCGCCCTCCCTGGCGGCCTCA
CCCTGCCACCGGTGCCCTTCACCAAGCTTCCCATCGTCAGGCATGTGAAACTATTGAACCTTCC
TGCTAGCCTCCGGCCACACAAAATGAAAAGCTTGCTGGGTCAGAACGTGTCAACCAAAAGTCCT
TTCATCTATTCACCAATTATCGCACACAACCGTGGAGAAGAGCGGAACAAGAAAATAGATTTCC
AGTGGGTTCAAGGAGATGTGTGTGAAGTTCAGCTGATGGTATATAACCCAATGCCGTTTGAACT
TCGAGTTGAAAACATGGGGCTGCTCACCAGCGGAGTGGAGTTCGAGTCTCTCCCTGCGGCGCTT
TCTCTTCCGGCTGAATCTGGTCTGTACCCAGTGACGCTCGTCGGGGTCCCGCAGACGACTGGAA
CGATTACTGTGAACGGTTACCATACCACGGTCTTCGGTGTGTTCAGTGACTGTTTGCTGGATAA
CCTGCCGGGAATAAAAACCAGTGGCTCCACAGTGGAAGTCATTCCCGCGTTGCCAAGACTGCAG
ATCAGCACCTCTCTGCCCAGATCTGCACATTCATTGCAACCTTCTTCTGGTGATGAAATATCTA
CTAATGTATCTGTCCAGCTTTACAATGGAGAAAGTCAGCAACTAATCATTAAATTGGAAAATAT
TGGAATGGAACCATTGGAGAAACTGGAGGTCACCTCGAAAGTTCTCACCACTAAAGAAAAATTG
TATGGCGACTTCTTGAGCTGGAAGCTAGAGGAAACCCTTGCCCAGTTCCCTTTGCAGCCTGGGA
AGGTGGCCACGTTCACAATCAACATCAAAGTGAAGCTGGATTTCTCCTGCCAGGAGAATCTCCT
GCAGGATCTCAGTGATGATGGAATCAGTGTGAGTGGCTTTCCCCTGTCCAGTCCTTTTCGGCAG
GTCGTTCGGCCCCGAGTGGAGGGCAAACCTGTGAACCCACCCGAGAGCAACAAAGCAGGCGACT
ACAGCCACGTGAAGACCCTGGAAGCTGTCCTGAATTTCAAATACTCTGGAGGCCCGGGCCACAC
TGAAGGATATTACAGGAATCTCTCCCTGGGGCTGCATGTAGAAGTCGAGCCGTCTGTATTTTTC
ACCCGAGTCAGCACCCTCCCAGCAACCAGTACCCGGCAGTGTCACCTGCTCCTGGATGTCTTCA
ACTCCACCGAGCATGAGCTGACCGTCAGCACCAGGAGCAGCGAGGCACTCATCCTGCACGCCGG
TGAGTGCCAGCGAATGGCTATTCAAGTGGACAAGTTCAACTTTGAGAGTTTCCCGGAGTCCCCT
GGGGAGAAGGGGCAATTTGCAAACCCCAAGCAGCTGGAGGAAGAGCGGCGGGAAGCCCGAGGCC
TGGAGATCCACAGCAAGCTGGGCATCTGCTGGAGAATCCCCTCCCTGAAGCGCAGTGGCGAGGC
GAGTGTGGAAGGACTCCTGAACCAGCTCGTCCTGGAGCACCTGCAGCTGGCGCCTCTGCAGTGG
GATGTGCTGGTGGACGGACAGCCATGTGACCGCGAGGCTGTGGCGGCCTGCCAGGTGGGCGACC
CCGTGCGCCTGGAGGTGCGGCTGACCAACCGGAGCCCGCGCAGCGTAGGGCCCTTCGCCCTCAC
TGTGGTCCCCTTCCAGGACCACCAGAACGGCGTGCACAACTACGACCTGCACGACACCGTCTCC
TTCGTGGGCTCCAGCACCTTCTACCTCGACGCGGTGCAGCCGTCCGGCCAGTCGGCCTGCCTCG
GGGCCCTCCTCTTCCTCTACACGGGAGACTTCTTCCTCCACATCCGGTTCCACGAGGACAGCAC
CAGCAAGGAGCTGCCACCCTCTTGGTTCTGCCTGCCCAGTGTGCACGTGTGTGCCCTGGAGGCG
CAGGCCTGAGCCCGCCTACTTCCGTCCCTCTTTCTGCAGGGCCAGAGGTGACCCTGCCTGGCCT
CCCACACCCCCTGCAATGAGCAAGGCCTTCACTGCAGCCCCATCTCCTCCTCCTCCCCCAGACC
CCTCCCAGCCCTCTCCTCCTGTTCCTCCTGTAGCATCTTTGCTGGGCTACGCAGAAGCCCCGGA
CATGGCAGCCCCACCCCATGCCACGCCCCTTCCTACACTGTTCCCTGGACCATACACAGGCTGA
AGCAGAGGAAATCCCAAAGCGGGTGCCCATCCAGCCCAGGTCCCAGGATCCCTGCACCCATTTC
TGTGACCTGGGGCCCCAGCCGTGCTGTGCTGCTCATCCCAGCAGAGGGACCTCCCTCGTCCAGC
GACTTCCCTTTGGCCATAGAAAGAAATGGTGAGCATGAGACTGGGCACAGCCTGAGGGCGTGGG
CAGCTTCCCACCCTCCCTGGGCCTTGGAATCCCCCAAGGCTGGTTTTCTTCCTGGAGACCCCCA
TGGGCAACTTGGCAGGAGAGATGGTGCCGTAGGAGGTCGTGGATGGTTGATGCCAAGAGAGGCC
CTCCACCCGTGGTGGGCAAATGTCCAGGCCTGGGCTGGCAGCCCAGGGCTGTTTCTGGGTGCTC
CCTGGCCCCAGGGTGGCGTCTGGTTACCATGGCTGTGTGTGTCCATGTCTGCAAGCAGTTCTTC
AATAAATGGCCTGCCTCCCCCTCCCTGCCTCCCTGCATCTGCTAGCCCAGTGCAGTCCGGGGCC
CCCACCCAGCCCGTCAGCCCCCACCTCAGGTGGCTGGCTTCCCAGCAGAAGCCGGACCCAGGAA
GGGACGGGTTCTGAGTTAGAGATCTCACATAAGCAAACGCTGAGACAGGAATCTGGTCACCAGC
AGCTTGTCTGGGAGGTGGAAGGAGGCCTGCAGGGGAGGGAGATCACCAGTGAAGGAGTGTGACT
GGGCCCGAGCTGCCGCCACAGTGGGCAGCTGGCCCTGCGTTCCTCAGGGAGGACCGGAGAGAGA
AAGCACACGGCTCACATCTCCCTTGAGGGCCAGAGCTGGGGTGTGTCTACACTACCCACAAGAG
TCCTGTTCTGGGGGCAGGCTTCTGGCTGTGTTGACCCTTAGCTCCCCAGGTCCCAGGGAGGATA
AACAGCCCTTGGTCCCCAGCAGATACCAGGCTCGTCAGGTGCCCGTTGGGCACTGAAACTCCCA
TGGAGTATTGGGGGACAGAGAGCGGGGCTTCCTAAAGGCCAGTTGGCCAAACAGGCAGAGCCAG
GAAGTGGCTGCCCTGGCCTCCCATGGGGCAGAGTCATGTTGGCATCAGGAGGCCTGCGGGGCTG
AGGGAACTTCCTGAGGACCTGAAGTCCCAGGCCCAAACCTCCCTCGCTGGGAGCAAGGTCACCC
TGTGGCCTCCGGCCTAAGGAACAAATTTTTTGTTCCATCTGTGGCCTCCTGTTGTCGCTCAGTG
AATGATGGGAGCACACTGTGATGTGGTGTGGGCTGGGGGCATGTGGGGGCGGGTGTCCAGTGGC
CCTCAGTTCCTGGAGCTCATTCAGCATCTGCTCGAGGCTCCCCAGGGAAGGCAGCCCCAGAAGG
TCTGGCTGCAGTAGGGGGTGGAGACCCCAGGGCGGTCTCTTCAGCCCTTCCGTTCAGGATGCCT
CAGCGTAGTTGAGGGCCTGGCCACCTGGGCTGTTTCTGAATGGAACAAACAGCATCCATGTGTG
TCAACCTCAACAGAGCCCAAAAATACGCCATTGAATGAAACAACACATTGCAGGATGATGGGCT
CAGCCCAACCTCACTTGTGTAGACAATGTCCCCCCAAATTATAAATTTTCTATGCCTCAGAACG
TGTCTATAACAACATGTTTAAAAGGTAGAAAGGATACACATCCCCTGTAGAAGAGTGACCTGAA
CTGGAGTTGCATTTGACATCTGATGTCAGCATGAGGGTGCTGGTCACCGGGGACTTGAGTACGT
ACTTTCCTTTCAAAAGCACAATAGATCAAGATACAGGTACACACATAGCTACAGATATAGATCC
AGCCACAGATCCAGATTAGATATAGATGCATATAGAAGCCTAGAAAAGCCAATATGGAAAACTC
TGGCAGTGTTTGATTCTGAGTGGCAAGCATATTGGTGACTGTAATTATTTCTTGCAGTTTTCTA
TATTTTTTAGTTTCCCAAACTGCAAAAAATACCCACAACAGTTACCAGAGAAAATGCTGGATGC
CACAAGAAGGAAGAACCTCAAGGGGCAGGAGGCAAAGTTGTCTTCTTGGAGGAGGGGGTGTTAG
AAATAACCCAGGCCTCCTGGAAAATGACCCAAATACAGCCTGGCTCTGCCAGCCCCAGGCCCTT
CCCCACCCCCAGGGCACCCTTTCTGTCCCAGTAGAGAAGGTGACCTGGAGTCAGGCCTTGTGTG
TGCTCCAAGCGTTTGGAGCTTTACCGTGGGATGTGGGGAGCCAGGGGTGTTGTTTGCTGGCATT
TCTGTGGCTGGGTCTTTCTGGCTGTGGAGCTGTGTTTGTGGGCAGTGGCTGAGATGGAGGACCT
GGGGCAGGTGTCTCAGTGACAGCGCAGTATCCTCCAGCCTCTTCCAGGGCCCCACGCTACTGGC
TACCTGGCAATACAGTCCAGCAGTTGCTGCTTCTCTAGGCCCCTGGTGCATTCAGAAACCTCCT
GAAGGCCAGCGGAGGGTAAGCCAGGAACAGATCATGTCCATTGCACTTCACTAGCTGAGCGAGT
TGGTTCTGCCCTTCTGATCCTTGGTCCCTCAGGGCCAGGACAGGCCCGGTGACCCCATAATCAT
GCAGCCGTCATGCTCCGTCATCTGAAATTCACAAGGAAGGCAAGGATTCAAAGGAAGATGTCTG
AGATGCTGAACTCCAGCTCAGCCACTTGTCAACTCCTTGACCTTGGACAAGTTACTTAAATTAA
GCCTTGATTTTTTTTCATCTGAATAAATAGAGATAAAAATACTTA

hide sequence

RefSeq Acc Id:

XM_017013893 ⟹ XP_016869382

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	140,176,133 - 140,458,579 (-)	NCBI

Sequence:

show sequence

AAAGTCGGGAGTGCCATGGTGCCAGCTGGGGATCAAGACCGCGCGCCACACAGGGGGAAGCCGG
CCCAGGCTGGGGCTCGCACCTCACGTGCCTCCCGGGCCCTGCGATCCTGGAGGCGCTCCCAGGC
CGCGCGCGCCACGGTCACCCACCCACGTGGGGGGCACGACCGTGGGAGTCACGGGGGGTACCGT
GAGGGTCACAGGGGGTGCCGCAGGGATCCACAGTGGGCTTCCGCGGGGCCTCCACCCCTGAGCT
TCACAGAGGAAGTGAAATTTGAGCTGCGCGCCCTGAAGGACTGGGACTTCAAAATGAGCGTCCC
TGACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATC
GTCTCCGAGGAGAACTTCTTCAGGATCTATAAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGC
GGGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTG
GGGTGACTTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCC
AAGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATCTACGGCTCCACACTGT
ATGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGT
GGCTTTCTACCCCAACTACGAGGACTGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAG
TCACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGA
TCCCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACA
TTACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGGGACCTGTGCCTGCAGGCAGGG
ATGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACT
TTCTGTGGCTTGGAGCTGCCCTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGG
TGGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCAGCC
AATAGACACCGGCCAGGGGCACAGGAAGTTCTCATTGATCCAGGTGCCCTCACCACCAATGGCA
TCAACCCTGACACCAGTACTGAGATCGGACGTGCTAAGAACTGCCTTAGCCCTGAAGACATAAT
TGACAAGTATAAAGAGGCGATTTCCTATTACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTG
GAAGCGTGCATCAAGGCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAAT
TTCTTCAGAATGCAGTTTACATTAACCTTCGACAGCTTTCTGAGGAAGAGAAAATTCAGCGCTA
CAGCATCCTCTCCGAGCTCTATGAGCTGATCGGCTTCCATCGCAAGTCTGCGTTCTTCAAGCGC
GTGGCCGCCATGCAGTGCGTGGCCCCAAGCATCGCGGAGCCTGGGTGGAGGGCCTGCTACAAAC
TCCTCCTGGAAACGCTGCCCGGCTACAGTCTGTCGCTGGATCCCAAAGATTTCAGCAGAGGCAC
GCACAGAGGCTGGGCTGCGGTCCAGATGCGTTTGCTCCATGAATTGGTCTACGCCTCCCGAAGG
ATGGGGAACCCTGCCCTCTCTGTCAGACACCTGTCCTTCCTTCTACAGACCATGCTGGACTTCT
TGTCGGATCAGGAAAAGAAAGATGTGGCCCAAAGCCTAGAGAACTATACGTCCAAGTGTCCTGG
GACCATGGAGCCCATCGCCCTCCCTGGCGGCCTCACCCTGCCACCGGTGCCCTTCACCAAGCTT
CCCATCGTCAGGCATGTGAAACTATTGAACCTTCCTGCTAGCCTCCGGCCACACAAAATGAAAA
GCTTGCTGGGTCAGAACGTGTCAACCAAAAGTCCTTTCATCTATTCACCAATTATCGCACACAA
CCGTGGAGAAGAGCGGAACAAGAAAATAGATTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTT
CAGCTGATGGTATATAACCCAATGCCGTTTGAACTTCGAGTTGAAAACATGGGGCTGCTCACCA
GCGGAGTGGAGTTCGAGTCTCTCCCTGCGGCGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCC
AGTGACGCTCGTCGGGGTCCCGCAGACGACTGGAACGATTACTGTGAACGGTTACCATACCACG
GTCTTCGGTGTGTTCAGTGACTGTTTGCTGGATAACCTGCCGGGAATAAAAACCAGTGGCTCCA
CAGTGGAAGTCATTCCCGCGTTGCCAAGACTGCAGATCAGCACCTCTCTGCCCAGATCTGCACA
TTCATTGCAACCTTCTTCTGGTGATGAAATATCTACTAATGTATCTGTCCAGCTTTACAATGGA
GAAAGTCAGCAACTAATCATTAAATTGGAAAATATTGGAATGGAACCATTGGAGAAACTGGAGG
TCACCTCGAAAGTTCTCACCACTAAAGAAAAATTGTATGGCGACTTCTTGAGCTGGAAGCTAGA
GGAAACCCTTGCCCAGTTCCCTTTGCAGCCTGGGAAGGTGGCCACGTTCACAATCAACATCAAA
GTGAAGCTGGATTTCTCCTGCCAGGAGAATCTCCTGCAGGATCTCAGTGATGATGGAATCAGTG
TGAGTGGCTTTCCCCTGTCCAGTCCTTTTCGGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACC
TGTGAACCCACCCGAGAGCAACAAAGCAGGCGACTACAGCCACGTGAAGGAAAATGAAAACACG
GATTCACTCAAAGACATGACCGATGCCCATAGCAGCTTTATTCATAATAGCCCCAAACTGGAAA
CAAAATGTCCAGGAACAGATGAATGGATAAACACACTTTAACATACCCATGCAGTGCAATACCA
CGTGGCAGTGGAGAGAAACGAGCTACCGGTATGCCCAACACACAGATGAATCTCAGAAACGTTA
CTGTCTGTGGAAGCAAGACACGAAAGAATGCAGACTGTGTGATTCTGTTCATAAGGAATTCTGG
AATGTGCAAAGTGAAACTGTCATAACAGGAGGCAGGTCACTCGTTGCTGGAGGCTTTGGGGTGG
GACGTTAGATGGCCAGAGAGGAGGCAGGAAGGCACTTTTAGGGGTGATGGGAATACTCTACGTG
TTAGTTGTGCAAGTGGATACACCAGTACGTTAATTTATTAGGGGTGGTTTTGCATACACTTGGA
GTGGCAACATTTTGTTCATATTAATTATTTCTCAATAAAATAAAACAACTTTCATAGTTCAAGA
GAGATCGTCTTTGACTGTCTTTCCTTACCTCTCAGCCTGTCGATGTGTTCAGTGGCCCTGTATT
TTCCTTTGTCACATCACTTAGCACACACTGAGTTGCGACGGTTTCCTTCCCTGTCTCTTCCATC
AGACTCTCAGTTTCTTAAGAACAAGGAATGTCTTTTACGTGTCTGTCCTCAGGGCATAGCCCGA
TGTCTGGCATGCACATTCACTGCCGAATAAGTGTATGTTCAGTAGGATGGCTTCAATTTATTGA
TTGCCTACAATGTGAGATAGTTGTAGATGTTTTGCATTTATTATTTCTGATCCTTAGTAAATGT
TTGCTACACAAATAAAGAATCCTCACTGCATTCCAGAAGTCATGGTACACGGTTGCACACTGTC
ATGGAGTGTATAGCATTGGAGCACAGCACACAGAGAGGCTGGATGGTTTAAATATTCTGTTCAA
TGGCAGTGTCAGGATTAAACCCGTGGATGTCGTCAGATTTCGTTGTTTTACATCTAAATCTTCA
GCTATTGTCTGCACATACTTAAGACTCAGTTACTTTTCTGTTTTTAGAATTGGTCTTGTCAGCA
AGTAGAGTTTACTCTGGAGATGTGAGCCTTACATTTTCTAATCTCTTTGGCGTTCATTTCTTTT
GTTTGAGGCTGTGATTCAAAGTAGGAAACATGCTGGAACCAACTCTTTTTCAGAACCTGGCCCG
CATCTCAGGTGCTGCTTGCTTAATTGCGTAATAAAGGACCTCTGTGGTAGAAGCCTGGAAACTG
CTGTGGCGTCTCTTATGCCAATGTCTGCTTGTTCCCTTTCCCTCAAAGAAATAATACATCTCTT
GCTGACACTCAGTGTAATGGAGGTTCATAATTCAAAAACCAATTATTTGGGGCAACTATTGGAT
GAATTTTCTTTGGCATCCTTTTGTTGGCTGATTTTCCTGTTAGCTGTGTGTACTGTTTTCTAAA
GAAACATGGTAAGTGGTTGTCTGTTGGAAATTGAATTGTAATTGAATAGATTCTGAGATTTGAC
GACTGAAACCAGGCAACACCATGTACTCCCCATTTTTGTTGTCTGTTAAATTCTAAAGAGGTTT
TTAAGTATCTTTGACTTTCGGTTACAGTAAAAAAAAAAAAAAAAATCCCCAGGTGCATTGAAAA
ACAGTTTGGTAGTTCCACAAAAAACATAGTTATCATATGAGCCCACATTTCCACCCTGGGTCTA
TACTCAAGAGAACTGAAAACATGTTTGCAAAAACTTGAACACAATGTTCATAGCAGTATTATTT
ATGATAGTCAAACAGTGGAAACAACCGAAATGCCCGTCAGCTGGTGAATGGATAAACTGTTGTA
GATTAATGCAATAGAATTATTATTTCAGCCCAGAAAAGGAGTGACGTACTGATCCATGCTTTGA
CATGATGCACCTTGAAAACATCGTTAAGCGGAAGAAGCCAGACACAAAAGGCCACACGTCATAT
GACGCCATTTATAGGAAGTGTCCAGAATAGGCAATTCCATGGAGACAGAAGGCAGATTGATGGT
TGCCAGGGGCTTGGGGGAAAGCAGGAGGGGGAATCGGGAGTGACTGCTAATGGGTACATGATTT
CTTTTTGGGATGATGGAAATACTCCGAAATTAGATAGTGATGATGATTGCACAATTCTGTGAAT
ATACTAAAAGTCACTGAGTTGTATACCGTTTCCAAAGGGTGAATTTTATGGCGTGTGAATTATA
CCTCAATTTATTTTATTTTTTAACTTTTACGTTTGGGG

hide sequence

RefSeq Acc Id:

XM_017013894 ⟹ XP_016869383

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,727,725 - 140,368,373 (-)	NCBI

Sequence:

show sequence

AGATGGCTGAGATCTGGCAGGGAGTTTGGCACTTTGTGTGTTCACCCTCAACATGTGAATGGTG
TCCAGCACAAAGCAAGAACCAAGACGTCCCTGCGGAATAGAAGGCCTGCTGGAGAGGGTCCTGA
ACTCTGCTCTTGACCTCTTGCACTCAGTATCATCACAACGGCTAAGACAAAAGCAAGGGATAAG
ATCCAGCTTCAAAATGAACTCCACCAACAGTATGAGTCCAGTCATCAGCACAGCCAGCACAGCC
AGATGCCAAGTCCCACGTTTAAAGAAACCCCAAAAACCATGACGGGGTGCAGAATAGAGGAGAC
CTGGAGAGGTCATACACAAAGATGGATAAGGCACGCACAGAGGCTGGGCTGCGGTCCAGATGCG
TTTGCTCCATGAATTGGTCTACGCCTCCCGAAGGATGGGGAACCCTGCCCTCTCTGTCAGACAC
CTGTCCTTCCTTCTACAGACCATGCTGGACTTCTTGTCGGATCAGGAAAAGAAAGATGTGGCCC
AAAGCCTAGAGAACTATACGTCCAAGTGTCCTGGGACCATGGAGCCCATCGCCCTCCCTGGCGG
CCTCACCCTGCCACCGGTGCCCTTCACCAAGCTTCCCATCGTCAGGCATGTGAAACTATTGAAC
CTTCCTGCTAGCCTCCGGCCACACAAAATGAAAAGCTTGCTGGGTCAGAACGTGTCAACCAAAA
GTCCTTTCATCTATTCACCAATTATCGCACACAACCGTGGAGAAGAGCGGAACAAGAAAATAGA
TTTCCAGTGGGTTCAAGGAGATGTGTGTGAAGTTCAGCTGATGGTATATAACCCAATGCCGTTT
GAACTTCGAGTTGAAAACATGGGGCTGCTCACCAGCGGAGTGGAGTTCGAGTCTCTCCCTGCGG
CGCTTTCTCTTCCGGCTGAATCTGGTCTGTACCCAGTGACGCTCGTCGGGGTCCCGCAGACGAC
TGGAACGATTACTGTGAACGGTTACCATACCACGGTCTTCGGTGTGTTCAGTGACTGTTTGCTG
GATAACCTGCCGGGAATAAAAACCAGTGGCTCCACAGTGGAAGTCATTCCCGCGTTGCCAAGAC
TGCAGATCAGCACCTCTCTGCCCAGATCTGCACATTCATTGCAACCTTCTTCTGGTGATGAAAT
ATCTACTAATGTATCTGTCCAGCTTTACAATGGAGAAAGTCAGCAACTAATCATTAAATTGGAA
AATATTGGAATGGAACCATTGGAGAAACTGGAGGTCACCTCGAAAGTTCTCACCACTAAAGAAA
AATTGTATGGCGACTTCTTGAGCTGGAAGCTAGAGGAAACCCTTGCCCAGTTCCCTTTGCAGCC
TGGGAAGGTGGCCACGTTCACAATCAACATCAAAGTGAAGCTGGATTTCTCCTGCCAGGAGAAT
CTCCTGCAGGATCTCAGTGATGATGGAATCAGTGTGAGTGGCTTTCCCCTGTCCAGTCCTTTTC
GGCAGGTCGTTCGGCCCCGAGTGGAGGGCAAACCTGTGAACCCACCCGAGAGCAACAAAGCAGG
CGACTACAGCCACGTGAAGACCCTGGAAGCTGTCCTGAATTTCAAATACTCTGGAGGCCCGGGC
CACACTGAAGGATATTACAGGAATCTCTCCCTGGGGCTGCATGTAGAAGTCGAGCCGTCTGTAT
TTTTCACCCGAGTCAGCACCCTCCCAGCAACCAGTACCCGGCAGTGTCACCTGCTCCTGGATGT
CTTCAACTCCACCGAGCATGAGCTGACCGTCAGCACCAGGAGCAGCGAGGCACTCATCCTGCAC
GCCGGTGAGTGCCAGCGAATGGCTATTCAAGTGGACAAGTTCAACTTTGAGAGTTTCCCGGAGT
CCCCTGGGGAGAAGGGGCAATTTGCAAACCCCAAGCAGCTGGAGGAAGAGCGGCGGGAAGCCCG
AGGCCTGGAGATCCACAGCAAGCTGGGCATCTGCTGGAGAATCCCCTCCCTGAAGCGCAGTGGC
GAGGCGAGTGTGGAAGGACTCCTGAACCAGCTCGTCCTGGAGCACCTGCAGCTGGCGCCTCTGC
AGTGGGATGTGCTGGTGGACGGACAGCCATGTGACCGCGAGGCTGTGGCGGCCTGCCAGGTGGG
CGACCCCGTGCGCCTGGAGGTGCGGCTGACCAACCGGAGCCCGCGCAGCGTAGGGCCCTTCGCC
CTCACTGTGGTCCCCTTCCAGGACCACCAGAACGGCGTGCACAACTACGACCTGCACGACACCG
TCTCCTTCGTGGGCTCCAGCACCTTCTACCTCGACGCGGTGCAGCCGTCCGGCCAGTCGGCCTG
CCTCGGGGCCCTCCTCTTCCTCTACACGGGAGACTTCTTCCTCCACATCCGGTTCCACGAGGAC
AGCACCAGCAAGGAGCTGCCACCCTCTTGGTTCTGCCTGCCCAGTGTGCACGTGTGTGCCCTGG
AGGCGCAGGCCTGAGCCCGCCTACTTCCGTCCCTCTTTCTGCAGGGCCAGAGGTGACCCTGCCT
GGCCTCCCACACCCCCTGCAATGAGCAAGGCCTTCACTGCAGCCCCATCTCCTCCTCCTCCCCC
AGACCCCTCCCAGCCCTCTCCTCCTGTTCCTCCTGTAGCATCTTTGCTGGGCTACGCAGAAGCC
CCGGACATGGCAGCCCCACCCCATGCCACGCCCCTTCCTACACTGTTCCCTGGACCATACACAG
GCTGAAGCAGAGGAAATCCCAAAGCGGGTGCCCATCCAGCCCAGGTCCCAGGATCCCTGCACCC
ATTTCTGTGACCTGGGGCCCCAGCCGTGCTGTGCTGCTCATCCCAGCAGAGGGACCTCCCTCGT
CCAGCGACTTCCCTTTGGCCATAGAAAGAAATGGTGAGCATGAGACTGGGCACAGCCTGAGGGC
GTGGGCAGCTTCCCACCCTCCCTGGGCCTTGGAATCCCCCAAGGCTGGTTTTCTTCCTGGAGAC
CCCCATGGGCAACTTGGCAGGAGAGATGGTGCCGTAGGAGGTCGTGGATGGTTGATGCCAAGAG
AGGCCCTCCACCCGTGGTGGGCAAATGTCCAGGCCTGGGCTGGCAGCCCAGGGCTGTTTCTGGG
TGCTCCCTGGCCCCAGGGTGGCGTCTGGTTACCATGGCTGTGTGTGTCCATGTCTGCAAGCAGT
TCTTCAATAAATGGCCTGCCTCCCCCTCCCTGCCTCCCTGCATCTGCTAGCCCAGTGCAGTCCG
GGGCCCCCACCCAGCCCGTCAGCCCCCACCTCAGGTGGCTGGCTTCCCAGCAGAAGCCGGACCC
AGGAAGGGACGGGTTCTGAGTTAGAGATCTCACATAAGCAAACGCTGAGACAGGAATCTGGTCA
CCAGCAGCTTGTCTGGGAGGTGGAAGGAGGCCTGCAGGGGAGGGAGATCACCAGTGAAGGAGTG
TGACTGGGCCCGAGCTGCCGCCACAGTGGGCAGCTGGCCCTGCGTTCCTCAGGGAGGACCGGAG
AGAGAAAGCACACGGCTCACATCTCCCTTGAGGGCCAGAGCTGGGGTGTGTCTACACTACCCAC
AAGAGTCCTGTTCTGGGGGCAGGCTTCTGGCTGTGTTGACCCTTAGCTCCCCAGGTCCCAGGGA
GGATAAACAGCCCTTGGTCCCCAGCAGATACCAGGCTCGTCAGGTGCCCGTTGGGCACTGAAAC
TCCCATGGAGTATTGGGGGACAGAGAGCGGGGCTTCCTAAAGGCCAGTTGGCCAAACAGGCAGA
GCCAGGAAGTGGCTGCCCTGGCCTCCCATGGGGCAGAGTCATGTTGGCATCAGGAGGCCTGCGG
GGCTGAGGGAACTTCCTGAGGACCTGAAGTCCCAGGCCCAAACCTCCCTCGCTGGGAGCAAGGT
CACCCTGTGGCCTCCGGCCTAAGGAACAAATTTTTTGTTCCATCTGTGGCCTCCTGTTGTCGCT
CAGTGAATGATGGGAGCACACTGTGATGTGGTGTGGGCTGGGGGCATGTGGGGGCGGGTGTCCA
GTGGCCCTCAGTTCCTGGAGCTCATTCAGCATCTGCTCGAGGCTCCCCAGGGAAGGCAGCCCCA
GAAGGTCTGGCTGCAGTAGGGGGTGGAGACCCCAGGGCGGTCTCTTCAGCCCTTCCGTTCAGGA
TGCCTCAGCGTAGTTGAGGGCCTGGCCACCTGGGCTGTTTCTGAATGGAACAAACAGCATCCAT
GTGTGTCAACCTCAACAGAGCCCAAAAATACGCCATTGAATGAAACAACACATTGCAGGATGAT
GGGCTCAGCCCAACCTCACTTGTGTAGACAATGTCCCCCCAAATTATAAATTTTCTATGCCTCA
GAACGTGTCTATAACAACATGTTTAAAAGGTAGAAAGGATACACATCCCCTGTAGAAGAGTGAC
CTGAACTGGAGTTGCATTTGACATCTGATGTCAGCATGAGGGTGCTGGTCACCGGGGACTTGAG
TACGTACTTTCCTTTCAAAAGCACAATAGATCAAGATACAGGTACACACATAGCTACAGATATA
GATCCAGCCACAGATCCAGATTAGATATAGATGCATATAGAAGCCTAGAAAAGCCAATATGGAA
AACTCTGGCAGTGTTTGATTCTGAGTGGCAAGCATATTGGTGACTGTAATTATTTCTTGCAGTT
TTCTATATTTTTTAGTTTCCCAAACTGCAAAAAATACCCACAACAGTTACCAGAGAAAATGCTG
GATGCCACAAGAAGGAAGAACCTCAAGGGGCAGGAGGCAAAGTTGTCTTCTTGGAGGAGGGGGT
GTTAGAAATAACCCAGGCCTCCTGGAAAATGACCCAAATACAGCCTGGCTCTGCCAGCCCCAGG
CCCTTCCCCACCCCCAGGGCACCCTTTCTGTCCCAGTAGAGAAGGTGACCTGGAGTCAGGCCTT
GTGTGTGCTCCAAGCGTTTGGAGCTTTACCGTGGGATGTGGGGAGCCAGGGGTGTTGTTTGCTG
GCATTTCTGTGGCTGGGTCTTTCTGGCTGTGGAGCTGTGTTTGTGGGCAGTGGCTGAGATGGAG
GACCTGGGGCAGGTGTCTCAGTGACAGCGCAGTATCCTCCAGCCTCTTCCAGGGCCCCACGCTA
CTGGCTACCTGGCAATACAGTCCAGCAGTTGCTGCTTCTCTAGGCCCCTGGTGCATTCAGAAAC
CTCCTGAAGGCCAGCGGAGGGTAAGCCAGGAACAGATCATGTCCATTGCACTTCACTAGCTGAG
CGAGTTGGTTCTGCCCTTCTGATCCTTGGTCCCTCAGGGCCAGGACAGGCCCGGTGACCCCATA
ATCATGCAGCCGTCATGCTCCGTCATCTGAAATTCACAAGGAAGGCAAGGATTCAAAGGAAGAT
GTCTGAGATGCTGAACTCCAGCTCAGCCACTTGTCAACTCCTTGACCTTGGACAAGTTACTTAA
ATTAAGCCTTGATTTTTTTTCATCTGAATAAATAGAGATAAAAATACTTA

hide sequence

RefSeq Acc Id:

XM_047422294 ⟹ XP_047278250

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,884,995 - 140,458,579 (-)	NCBI

RefSeq Acc Id:

XM_047422295 ⟹ XP_047278251

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,803,643 - 140,457,744 (-)	NCBI

RefSeq Acc Id:

XM_047422296 ⟹ XP_047278252

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,884,995 - 140,457,744 (-)	NCBI

RefSeq Acc Id:

XM_047422297 ⟹ XP_047278253

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	139,884,995 - 140,457,744 (-)	NCBI

RefSeq Acc Id:

XM_047422298 ⟹ XP_047278254

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	140,081,983 - 140,458,579 (-)	NCBI

RefSeq Acc Id:

XM_047422299 ⟹ XP_047278255

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	140,176,133 - 140,457,744 (-)	NCBI

RefSeq Acc Id:

XM_054361328 ⟹ XP_054217303

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	140,847,842 - 141,578,742 (-)	NCBI

RefSeq Acc Id:

XM_054361329 ⟹ XP_054217304

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	140,952,415 - 141,578,742 (-)	NCBI

RefSeq Acc Id:

XM_054361330 ⟹ XP_054217305

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	140,952,415 - 141,578,742 (-)	NCBI

RefSeq Acc Id:

XM_054361331 ⟹ XP_054217306

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	140,923,760 - 141,577,907 (-)	NCBI

RefSeq Acc Id:

XM_054361332 ⟹ XP_054217307

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	140,952,415 - 141,577,907 (-)	NCBI

RefSeq Acc Id:

XM_054361333 ⟹ XP_054217308

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	140,952,415 - 141,577,907 (-)	NCBI

RefSeq Acc Id:

XM_054361334 ⟹ XP_054217309

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	141,293,367 - 141,578,742 (-)	NCBI

RefSeq Acc Id:

XM_054361335 ⟹ XP_054217310

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	141,202,066 - 141,578,742 (-)	NCBI

RefSeq Acc Id:

XM_054361336 ⟹ XP_054217311

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	141,293,367 - 141,577,907 (-)	NCBI

RefSeq Acc Id:

XM_054361337 ⟹ XP_054217312

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	140,847,842 - 141,488,556 (-)	NCBI

RefSeq Acc Id:

XM_054361338 ⟹ XP_054217313

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	140,847,842 - 141,467,784 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001153844	(Get FASTA)	NCBI Sequence Viewer
	NP_001308575	(Get FASTA)	NCBI Sequence Viewer
	NP_001361611	(Get FASTA)	NCBI Sequence Viewer
	NP_001361612	(Get FASTA)	NCBI Sequence Viewer
	NP_001361613	(Get FASTA)	NCBI Sequence Viewer
	NP_113654	(Get FASTA)	NCBI Sequence Viewer
	XP_011515628	(Get FASTA)	NCBI Sequence Viewer
	XP_011515630	(Get FASTA)	NCBI Sequence Viewer
	XP_011515632	(Get FASTA)	NCBI Sequence Viewer
	XP_016869382	(Get FASTA)	NCBI Sequence Viewer
	XP_016869383	(Get FASTA)	NCBI Sequence Viewer
	XP_047278250	(Get FASTA)	NCBI Sequence Viewer
	XP_047278251	(Get FASTA)	NCBI Sequence Viewer
	XP_047278252	(Get FASTA)	NCBI Sequence Viewer
	XP_047278253	(Get FASTA)	NCBI Sequence Viewer
	XP_047278254	(Get FASTA)	NCBI Sequence Viewer
	XP_047278255	(Get FASTA)	NCBI Sequence Viewer
	XP_054217303	(Get FASTA)	NCBI Sequence Viewer
	XP_054217304	(Get FASTA)	NCBI Sequence Viewer
	XP_054217305	(Get FASTA)	NCBI Sequence Viewer
	XP_054217306	(Get FASTA)	NCBI Sequence Viewer
	XP_054217307	(Get FASTA)	NCBI Sequence Viewer
	XP_054217308	(Get FASTA)	NCBI Sequence Viewer
	XP_054217309	(Get FASTA)	NCBI Sequence Viewer
	XP_054217310	(Get FASTA)	NCBI Sequence Viewer
	XP_054217311	(Get FASTA)	NCBI Sequence Viewer
	XP_054217312	(Get FASTA)	NCBI Sequence Viewer
	XP_054217313	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH03650	(Get FASTA)	NCBI Sequence Viewer
	AAH06206	(Get FASTA)	NCBI Sequence Viewer
	AAH65288	(Get FASTA)	NCBI Sequence Viewer
	AAO38740	(Get FASTA)	NCBI Sequence Viewer
	AAV31908	(Get FASTA)	NCBI Sequence Viewer
	BAB55299	(Get FASTA)	NCBI Sequence Viewer
	BAB67775	(Get FASTA)	NCBI Sequence Viewer
	BAC87600	(Get FASTA)	NCBI Sequence Viewer
	CAH56384	(Get FASTA)	NCBI Sequence Viewer
	EAW92200	(Get FASTA)	NCBI Sequence Viewer
	EAW92201	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000405060
	ENSP00000405060.3
	ENSP00000430116
	ENSP00000430116.1
	ENSP00000488007.1
	ENSP00000498020
	ENSP00000498020.1
GenBank Protein	Q96Q05	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_113654 ⟸ NM_031466
- Peptide Label:	isoform b
- UniProtKB:	Q96SL2 (UniProtKB/Swiss-Prot), Q96Q05 (UniProtKB/Swiss-Prot), Q86Y21 (UniProtKB/Swiss-Prot), Q7L5C4 (UniProtKB/Swiss-Prot), Q6ZQT3 (UniProtKB/Swiss-Prot), Q6P149 (UniProtKB/Swiss-Prot), Q658K7 (UniProtKB/Swiss-Prot), Q4VTT3 (UniProtKB/Swiss-Prot), Q9BQA2 (UniProtKB/Swiss-Prot), H0YBR0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVPAGDQDRAPHRGKPAQAGARTSRASRALRSWRRSQAARATVTHPRGGHDRGSHGGYREGHRG CRRDPQWASAGPPPLSFTEEVKFELRALKDWDFKMSVPDYMQCAEDHQTLLVVVQPVGIVSEEN FFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPENNEWGDFQTHRKVVGLITITDCFSAKDWPQ TFEKFHVQKEIYGSTLYDSRLFVFGLQGEIVEQPRTDVAFYPNYEDCQTVEKRIEDFIESLFIV LESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDTDSRHYKKRCQGRMRKHVGDLCLQAGMLQDS LVHYHMSVELLRSVNDFLWLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEAANRHRP GAQEVLIDPGALTTNGINPDTSTEIGRAKNCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIK AVRVLAIQKRSMEASEFLQNAVYINLRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQ CVAPSIAEPGWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWAAVQMRLLHELVYASRRMGNPA LSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPGGLTLPPVPFTKLPIVRH VKLLNLPASLRPHKMKSLLGQNVSTKSPFIYSPIIAHNRGEERNKKIDFQWVQGDVCEVQLMVY NPMPFELRVENMGLLTSGVEFESLPAALSLPAESGLYPVTLVGVPQTTGTITVNGYHTTVFGVF SDCLLDNLPGIKTSGSTVEVIPALPRLQISTSLPRSAHSLQPSSGDEISTNVSVQLYNGESQQL IIKLENIGMEPLEKLEVTSKVLTTKEKLYGDFLSWKLEETLAQFPLQPGKVATFTINIKVKLDF SCQENLLQDLSDDGISVSGFPLSSPFRQVVRPRVEGKPVNPPESNKAGDYSHVKTLEAVLNFKY SGGPGHTEGYYRNLSLGLHVEVEPSVFFTRVSTLPATSTRQCHLLLDVFNSTEHELTVSTRSSE ALILHAGECQRMAIQVDKFNFESFPESPGEKGQFANPKQLEEERREARGLEIHSKLGICWRIPS LKRSGEASVEGLLNQLVLEHLQLAPLQWDVLVDGQPCDREAVAACQVGDPVRLEVRLTNRSPRS VGPFALTVVPFQDHQNGVHNYDLHDTVSFVGSSTFYLDAVQPSGQSACLGALLFLYTGDFFLHI RFHEDSTSKELPPSWFCLPSVHVCALEAQA hide sequence

RefSeq Acc Id:	NP_001153844 ⟸ NM_001160372
- Peptide Label:	isoform b
- UniProtKB:	Q96Q05 (UniProtKB/Swiss-Prot), Q96SL2 (UniProtKB/Swiss-Prot), Q86Y21 (UniProtKB/Swiss-Prot), Q7L5C4 (UniProtKB/Swiss-Prot), Q6ZQT3 (UniProtKB/Swiss-Prot), Q6P149 (UniProtKB/Swiss-Prot), Q658K7 (UniProtKB/Swiss-Prot), Q4VTT3 (UniProtKB/Swiss-Prot), Q9BQA2 (UniProtKB/Swiss-Prot), H0YBR0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSVPDYMQCAEDHQTLLVVVQPVGIVSEENFFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPE NNEWGDFQTHRKVVGLITITDCFSAKDWPQTFEKFHVQKEIYGSTLYDSRLFVFGLQGEIVEQP RTDVAFYPNYEDCQTVEKRIEDFIESLFIVLESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDT DSRHYKKRCQGRMRKHVGDLCLQAGMLQDSLVHYHMSVELLRSVNDFLWLGAALEGLCSASVIY HYPGGTGGKSGARRFQGSTLPAEAANRHRPGAQEVLIDPGALTTNGINPDTSTEIGRAKNCLSP EDIIDKYKEAISYYSKYKNAGVIELEACIKAVRVLAIQKRSMEASEFLQNAVYINLRQLSEEEK IQRYSILSELYELIGFHRKSAFFKRVAAMQCVAPSIAEPGWRACYKLLLETLPGYSLSLDPKDF SRGTHRGWAAVQMRLLHELVYASRRMGNPALSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTS KCPGTMEPIALPGGLTLPPVPFTKLPIVRHVKLLNLPASLRPHKMKSLLGQNVSTKSPFIYSPI IAHNRGEERNKKIDFQWVQGDVCEVQLMVYNPMPFELRVENMGLLTSGVEFESLPAALSLPAES GLYPVTLVGVPQTTGTITVNGYHTTVFGVFSDCLLDNLPGIKTSGSTVEVIPALPRLQISTSLP RSAHSLQPSSGDEISTNVSVQLYNGESQQLIIKLENIGMEPLEKLEVTSKVLTTKEKLYGDFLS WKLEETLAQFPLQPGKVATFTINIKVKLDFSCQENLLQDLSDDGISVSGFPLSSPFRQVVRPRV EGKPVNPPESNKAGDYSHVKTLEAVLNFKYSGGPGHTEGYYRNLSLGLHVEVEPSVFFTRVSTL PATSTRQCHLLLDVFNSTEHELTVSTRSSEALILHAGECQRMAIQVDKFNFESFPESPGEKGQF ANPKQLEEERREARGLEIHSKLGICWRIPSLKRSGEASVEGLLNQLVLEHLQLAPLQWDVLVDG QPCDREAVAACQVGDPVRLEVRLTNRSPRSVGPFALTVVPFQDHQNGVHNYDLHDTVSFVGSST FYLDAVQPSGQSACLGALLFLYTGDFFLHIRFHEDSTSKELPPSWFCLPSVHVCALEAQA hide sequence

RefSeq Acc Id:	XP_011515628 ⟸ XM_011517326
- Peptide Label:	isoform X1
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVPAGDQDRAPHRGKPAQAGARTSRASRALRSWRRSQAARATVTHPRGGHDRGSHGGYREGHRG CRRDPQWASAGPPPLSFTEEVKFELRALKDWDFKMSVPDYMQCAEDHQTLLVVVQPVGIVSEEN FFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPENNEWGDFQTHRKVVGLITITDCFSAKDWPQ TFEKFHVQKEIYGSTLYDSRLFVFGLQGEIVEQPRTDVAFYPNYEDCQTVEKRIEDFIESLFIV LESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDTDSRHYKKRCQGRMRKHVGDLCLQAGMLQDS LVHYHMSVELLRSVNDFLWLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEAANRHRP GALTTNGINPDTSTEIGRAKNCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIKAVRVLAIQK RSMEASEFLQNAVYINLRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQCVAPSIAEP GWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWAAVQMRLLHELVYASRRMGNPALSVRHLSFL LQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPGGLTLPPVPFTKLPIVRHVKLLNLPAS LRPHKMKSLLGQNVSTKSPFIYSPIIAHNRGEERNKKIDFQWVQGDVCEVQLMVYNPMPFELRV ENMGLLTSGVEFESLPAALSLPAESGLYPVTLVGVPQTTGTITVNGYHTTVFGVFSDCLLDNLP GIKTSGSTVEVIPALPRLQISTSLPRSAHSLQPSSGDEISTNVSVQLYNGESQQLIIKLENIGM EPLEKLEVTSKVLTTKEKLYGDFLSWKLEETLAQFPLQPGKVATFTINIKVKLDFSCQENLLQD LSDDGISVSGFPLSSPFRQVVRPRVEGKPVNPPESNKAGDYSHVKTLEAVLNFKYSGGPGHTEG YYRNLSLGLHVEVEPSVFFTRVSTLPATSTRQCHLLLDVFNSTEHELTVSTRSSEALILHAGEC QRMAIQVDKFNFESFPESPGEKGQFANPKQLEEERREARGLEIHSKLGICWRIPSLKRSGEASV EGLLNQLVLEHLQLAPLQWDVLVDGQPCDREAVAACQVGDPVRLEVRLTNRSPRSVGPFALTVV PFQDHQNGVHNYDLHDTVSFVGSSTFYLDAVQPSGQSACLGALLFLYTGDFFLHIRFHEDSTSK ELPPSWFCLPSVHVCALEAQA hide sequence

RefSeq Acc Id:

XP_011515632 ⟸ XM_011517330

- Peptide Label:

isoform X11

- Sequence:

show sequence

MEPIALPGGLTLPPVPFTKLPIVRHVKLLNLPASLRPHKMKSLLGQNVSTKSPFIYSPIIAHNR
GEERNKKIDFQWVQGDVCEVQLMVYNPMPFELRVENMGLLTSGVEFESLPAALSLPAESGLYPV
TLVGVPQTTGTITVNGYHTTVFGVFSDCLLDNLPGIKTSGSTVEVIPALPRLQISTSLPRSAHS
LQPSSGDEISTNVSVQLYNGESQQLIIKLENIGMEPLEKLEVTSKVLTTKEKLYGDFLSWKLEE
TLAQFPLQPGKVATFTINIKVKLDFSCQENLLQDLSDDGISVSGFPLSSPFRQVVRPRVEGKPV
NPPESNKAGDYSHVKTLEAVLNFKYSGGPGHTEGYYRNLSLGLHVEVEPSVFFTRVSTLPATST
RQCHLLLDVFNSTEHELTVSTRSSEALILHAGECQRMAIQVDKFNFESFPESPGEKGQFANPKQ
LEEERREARGLEIHSKLGICWRIPSLKRSGEASVEGLLNQLVLEHLQLAPLQWDVLVDGQPCDR
EAVAACQVGDPVRLEVRLTNRSPRSVGPFALTVVPFQDHQNGVHNYDLHDTVSFVGSSTFYLDA
VQPSGQSACLGALLFLYTGDFFLHIRFHEDSTSKELPPSWFCLPSVHVCALEAQA

hide sequence

RefSeq Acc Id:

XP_011515630 ⟸ XM_011517328

- Peptide Label:

isoform X2

- Sequence:

show sequence

MVPAGDQDRAPHRGKPAQAGARTSRASRALRSWRRSQAARATVTHPRGGHDRGSHGGYREGHRG
CRRDPQWASAGPPPLSFTEEVKFELRALKDWDFKMSVPDYMQCAEDHQTLLVVVQPVGIVSEEN
FFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPENNEWGDFQTHRKVVGLITITDCFSAKDWPQ
TFEKFHVQKEIYGSTLYDSRLFVFGLQGEIVEQPRTDVAFYPNYEDCQTVEKRIEDFIESLFIV
LESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDTDSRHYKKRCQGRMRKHVGDLCLQAGMLQDS
LVHYHMSVELLRSVNDFLWLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEAANRHRP
GAQEVLIDPGALTTNGINPDTSTEIGRAKNCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIK
AVRVLAIQKRSMEASEFLQNAVYINLRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQ
CVAPSIAEPGWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWAAVQMRLLHELVYASRRMGNPA
LSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPGGLTLPPVPFTKLPIVRH
VKLLNLPASLRPHKMKSLLGQNVSTKSPFIYSPIIAHNRGEERNKKIDFQWVQGDVCEVQLMVY
NPMPFELRVENMGLLTSGVEFESLPAALSLPAESGLYPVTLVGVPQTTGTITVNGYHTTVFGVF
SDCLLDNLPGIKTSGSTVEVIPALPRLQISTSLPRSAHSLQPSSGDEISTNVSVQLYNGESQQL
IIKLENIGMEPLEKLEVTSKVLTTKEKLYGDFLSWKLEETLAQFPLQPGKVATFTINIKVKLDF
SCQENLLQDLSDDGISVSGFPLSSPFRQVVRPRVEGKPVNPPESNKAGDYSHVKTLEAVLNFKY
SGGPGHTEGYYRNLSLGLHVEVEPSVFFTRVSTLPATSTRQCHLLLDVFNSTEHELTVSTRSSE
ALILHAGECQRMAIQVDKFNFESFPESPGEKGQFANPKQLEEERREARGLEIHSKLGICWRIPS
LKRSGEASVEGLLNQLVLEHLQLAPLQWGGQLSTPVTVQT

hide sequence

RefSeq Acc Id:	NP_001308575 ⟸ NM_001321646
- Peptide Label:	isoform c
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSVPDYMQCAEDHQTLLVVVQPVGIVSEENFFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPE NNEWGDFQTHRKVVGLITITDCFSAKDWPQTFEKFHVQKEIYGSTLYDSRLFVFGLQGEIVEQP RTDVAFYPNYEDCQTVEKRIEDFIESLFIVLESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDT DSRHYKKRCQGRMRKHVGDLCLQAGMLQDSLVHYHMSVELLRSVNDFLWLGAALEGLCSASVIY HYPGGTGGKSGARRFQGSTLPAEAANRHRPGALTTNGINPDTSTEIGRAKNCLSPEDIIDKYKE AISYYSKYKNAGVIELEACIKAVRVLAIQKRSMEASEFLQNAVYINLRQLSEEEKIQRYSILSE LYELIGFHRKSAFFKRVAAMQCVAPSIAEPGWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWA AVQMRLLHELVYASRRMGNPALSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPI ALPGGLTLPPVPFTKLPIVRHVKLLNLPASLRPHKMKSLLGQNVSTKSPFIYSPIIAHNRGEER NKKIDFQWVQGDVCEVQLMVYNPMPFELRVENMGLLTSGVEFESLPAALSLPAESGLYPVTLVG VPQTTGTITVNGYHTTVFGVFSDCLLDNLPGIKTSGSTVEVIPALPRLQISTSLPRSAHSLQPS SGDEISTNVSVQLYNGESQQLIIKLENIGMEPLEKLEVTSKVLTTKEKLYGDFLSWKLEETLAQ FPLQPGKVATFTINIKVKLDFSCQENLLQDLSDDGISVSGFPLSSPFRQVVRPRVEGKPVNPPE SNKAGDYSHVKTLEAVLNFKYSGGPGHTEGYYRNLSLGLHVEVEPSVFFTRVSTLPATSTRQCH LLLDVFNSTEHELTVSTRSSEALILHAGECQRMAIQVDKFNFESFPESPGEKGQFANPKQLEEE RREARGLEIHSKLGICWRIPSLKRSGEASVEGLLNQLVLEHLQLAPLQWDVLVDGQPCDREAVA ACQVGDPVRLEVRLTNRSPRSVGPFALTVVPFQDHQNGVHNYDLHDTVSFVGSSTFYLDAVQPS GQSACLGALLFLYTGDFFLHIRFHEDSTSKELPPSWFCLPSVHVCALEAQA hide sequence

RefSeq Acc Id:

XP_016869383 ⟸ XM_017013894

- Peptide Label:

isoform X10

- Sequence:

show sequence

MRLLHELVYASRRMGNPALSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALP
GGLTLPPVPFTKLPIVRHVKLLNLPASLRPHKMKSLLGQNVSTKSPFIYSPIIAHNRGEERNKK
IDFQWVQGDVCEVQLMVYNPMPFELRVENMGLLTSGVEFESLPAALSLPAESGLYPVTLVGVPQ
TTGTITVNGYHTTVFGVFSDCLLDNLPGIKTSGSTVEVIPALPRLQISTSLPRSAHSLQPSSGD
EISTNVSVQLYNGESQQLIIKLENIGMEPLEKLEVTSKVLTTKEKLYGDFLSWKLEETLAQFPL
QPGKVATFTINIKVKLDFSCQENLLQDLSDDGISVSGFPLSSPFRQVVRPRVEGKPVNPPESNK
AGDYSHVKTLEAVLNFKYSGGPGHTEGYYRNLSLGLHVEVEPSVFFTRVSTLPATSTRQCHLLL
DVFNSTEHELTVSTRSSEALILHAGECQRMAIQVDKFNFESFPESPGEKGQFANPKQLEEERRE
ARGLEIHSKLGICWRIPSLKRSGEASVEGLLNQLVLEHLQLAPLQWDVLVDGQPCDREAVAACQ
VGDPVRLEVRLTNRSPRSVGPFALTVVPFQDHQNGVHNYDLHDTVSFVGSSTFYLDAVQPSGQS
ACLGALLFLYTGDFFLHIRFHEDSTSKELPPSWFCLPSVHVCALEAQA

hide sequence

RefSeq Acc Id:

XP_016869382 ⟸ XM_017013893

- Peptide Label:

isoform X7

- Sequence:

show sequence

MVPAGDQDRAPHRGKPAQAGARTSRASRALRSWRRSQAARATVTHPRGGHDRGSHGGYREGHRG
CRRDPQWASAGPPPLSFTEEVKFELRALKDWDFKMSVPDYMQCAEDHQTLLVVVQPVGIVSEEN
FFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPENNEWGDFQTHRKVVGLITITDCFSAKDWPQ
TFEKFHVQKEIYGSTLYDSRLFVFGLQGEIVEQPRTDVAFYPNYEDCQTVEKRIEDFIESLFIV
LESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDTDSRHYKKRCQGRMRKHVGDLCLQAGMLQDS
LVHYHMSVELLRSVNDFLWLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEAANRHRP
GAQEVLIDPGALTTNGINPDTSTEIGRAKNCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIK
AVRVLAIQKRSMEASEFLQNAVYINLRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQ
CVAPSIAEPGWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWAAVQMRLLHELVYASRRMGNPA
LSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPGGLTLPPVPFTKLPIVRH
VKLLNLPASLRPHKMKSLLGQNVSTKSPFIYSPIIAHNRGEERNKKIDFQWVQGDVCEVQLMVY
NPMPFELRVENMGLLTSGVEFESLPAALSLPAESGLYPVTLVGVPQTTGTITVNGYHTTVFGVF
SDCLLDNLPGIKTSGSTVEVIPALPRLQISTSLPRSAHSLQPSSGDEISTNVSVQLYNGESQQL
IIKLENIGMEPLEKLEVTSKVLTTKEKLYGDFLSWKLEETLAQFPLQPGKVATFTINIKVKLDF
SCQENLLQDLSDDGISVSGFPLSSPFRQVVRPRVEGKPVNPPESNKAGDYSHVKENENTDSLKD
MTDAHSSFIHNSPKLETKCPGTDEWINTL

hide sequence

RefSeq Acc Id:	NP_001361613 ⟸ NM_001374684
- Peptide Label:	isoform f
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001361612 ⟸ NM_001374683
- Peptide Label:	isoform e
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001361611 ⟸ NM_001374682
- Peptide Label:	isoform d
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000405060 ⟸ ENST00000438773

Ensembl Acc Id:

ENSP00000498020 ⟸ ENST00000648948

Ensembl Acc Id:

ENSP00000488007 ⟸ ENST00000634178

Ensembl Acc Id:

ENSP00000373979 ⟸ ENST00000389328

Ensembl Acc Id:

ENSP00000430116 ⟸ ENST00000520857

RefSeq Acc Id:	XP_047278251 ⟸ XM_047422295
- Peptide Label:	isoform X4
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047278250 ⟸ XM_047422294
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_047278253 ⟸ XM_047422297
- Peptide Label:	isoform X6
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047278252 ⟸ XM_047422296
- Peptide Label:	isoform X5
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047278254 ⟸ XM_047422298
- Peptide Label:	isoform X8

RefSeq Acc Id:	XP_047278255 ⟸ XM_047422299
- Peptide Label:	isoform X9

RefSeq Acc Id:	XP_054217303 ⟸ XM_054361328
- Peptide Label:	isoform X1
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054217312 ⟸ XM_054361337
- Peptide Label:	isoform X10

RefSeq Acc Id:	XP_054217313 ⟸ XM_054361338
- Peptide Label:	isoform X11

RefSeq Acc Id:	XP_054217306 ⟸ XM_054361331
- Peptide Label:	isoform X4
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054217305 ⟸ XM_054361330
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054217304 ⟸ XM_054361329
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054217308 ⟸ XM_054361333
- Peptide Label:	isoform X6
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054217307 ⟸ XM_054361332
- Peptide Label:	isoform X5
- UniProtKB:	H0YBR0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054217310 ⟸ XM_054361335
- Peptide Label:	isoform X8

RefSeq Acc Id:	XP_054217309 ⟸ XM_054361334
- Peptide Label:	isoform X7

RefSeq Acc Id:	XP_054217311 ⟸ XM_054361336
- Peptide Label:	isoform X9

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96Q05-F1-model_v2	AlphaFold	Q96Q05	1-1148	view protein structure

Promoters

RGD ID:

7214251

Promoter ID:

EPDNEW_H12870

Type:

multiple initiation site

Name:

TRAPPC9_2

Description:

trafficking protein particle complex 9

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12871 EPDNEW_H12872

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	140,457,565 - 140,457,625	EPDNEW

RGD ID:

7214249

Promoter ID:

EPDNEW_H12871

Type:

initiation region

Name:

TRAPPC9_1

Description:

trafficking protein particle complex 9

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12870 EPDNEW_H12872

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	140,457,744 - 140,457,804	EPDNEW

RGD ID:

7214253

Promoter ID:

EPDNEW_H12872

Type:

multiple initiation site

Name:

TRAPPC9_3

Description:

trafficking protein particle complex 9

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H12871 EPDNEW_H12870

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	140,465,313 - 140,465,373	EPDNEW

RGD ID:

6807081

Promoter ID:

HG_KWN:62182

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

UC003YVI.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	141,530,561 - 141,531,061 (-)	MPROMDB

RGD ID:

6807080

Promoter ID:

HG_KWN:62183

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000389327, NM_001160372, UC003YVJ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	141,536,891 - 141,537,552 (-)	MPROMDB

RGD ID:

6807082

Promoter ID:

HG_KWN:62184

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, Lymphoblastoid

Transcripts:

ENST00000301226, NM_031466

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	141,537,379 - 141,537,879 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:30832	AgrOrtholog
COSMIC	TRAPPC9	COSMIC
Ensembl Genes	ENSG00000167632	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000438773	ENTREZGENE
	ENST00000438773.4	UniProtKB/Swiss-Prot
	ENST00000520857	ENTREZGENE
	ENST00000520857.5	UniProtKB/TrEMBL
	ENST00000634178.1	UniProtKB/TrEMBL
	ENST00000648948	ENTREZGENE
	ENST00000648948.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000167632	GTEx
HGNC ID	HGNC:30832	ENTREZGENE
Human Proteome Map	TRAPPC9	Human Proteome Map
InterPro	TRAPP_II_complex_Trs120	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:83696	UniProtKB/Swiss-Prot
NCBI Gene	83696	ENTREZGENE
OMIM	611966	OMIM
PANTHER	PTHR21512	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRAFFICKING PROTEIN PARTICLE COMPLEX SUBUNIT 9	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	TRAPPC9-Trs120	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162406921	PharmGKB
UniProt	A0A0J9YWK7_HUMAN	UniProtKB/TrEMBL
	H0YBR0	ENTREZGENE, UniProtKB/TrEMBL
	Q4VTT3	ENTREZGENE
	Q658K7	ENTREZGENE
	Q6P149	ENTREZGENE
	Q6ZQT3	ENTREZGENE
	Q7L5C4	ENTREZGENE
	Q86Y21	ENTREZGENE
	Q96Q05	ENTREZGENE
	Q96SL2	ENTREZGENE
	Q9BQA2	ENTREZGENE
	TPPC9_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q4VTT3	UniProtKB/Swiss-Prot
	Q658K7	UniProtKB/Swiss-Prot
	Q6P149	UniProtKB/Swiss-Prot
	Q6ZQT3	UniProtKB/Swiss-Prot
	Q7L5C4	UniProtKB/Swiss-Prot
	Q86Y21	UniProtKB/Swiss-Prot
	Q96SL2	UniProtKB/Swiss-Prot
	Q9BQA2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2021-02-15	TRAPPC9	trafficking protein particle complex subunit 9	TRAPPC9	trafficking protein particle complex 9	Symbol and/or name change	19259463	PROVISIONAL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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