CLTRN (collectrin, amino acid transport regulator)

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Gene: CLTRN (collectrin, amino acid transport regulator) Homo sapiens

Analyze

Symbol:

CLTRN

Name:

collectrin, amino acid transport regulator

RGD ID:

1354044

HGNC Page

HGNC:29437

Description:

Enables protein homodimerization activity. Involved in SNARE complex assembly and positive regulation of L-proline import across plasma membrane. Acts upstream of with a positive effect on calcium-ion regulated exocytosis and insulin secretion involved in cellular response to glucose stimulus. Located in cytoplasm and plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

0610008J07Rik; collectrin; kidney-specific membrane protein; NX-17; NX17; TMEM27; transmembrane protein 27

RGD Orthologs

Alliance Genes

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	X	15,627,318 - 15,675,644 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	15,627,318 - 15,675,012 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	15,645,441 - 15,682,928 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	15,555,372 - 15,593,075 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	15,405,107 - 15,442,811	NCBI
Celera	X	19,760,931 - 19,798,641 (-)	NCBI		Celera
Cytogenetic Map	X	p22.2	NCBI
HuRef	X	13,399,991 - 13,438,249 (-)	NCBI		HuRef
CHM1_1	X	15,676,401 - 15,714,121 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	15,210,303 - 15,247,770 (-)	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

autistic disorder (IAGP)

Fanconi anemia (IAGP)

genetic disease (IAGP)

hepatocellular carcinoma (EXP)

multiple congenital anomalies-hypotonia-seizures syndrome 2 (IAGP)

Neurodevelopmental Disorders (IAGP)

Renal Aminoacidurias (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

ureteral obstruction (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1-naphthyl isothiocyanate (ISO)

17beta-estradiol (EXP)

17beta-estradiol 3-benzoate (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

bis(2-chloroethyl) sulfide (EXP)

bisphenol A (ISO)

bisphenol F (EXP)

butanal (EXP)

cadmium atom (EXP)

calcitriol (EXP)

CGP 52608 (EXP)

ciguatoxin CTX1B (ISO)

cisplatin (EXP,ISO)

coumestrol (EXP)

Cuprizon (ISO)

cyclosporin A (EXP)

diazinon (ISO)

diquat (ISO)

dorsomorphin (EXP)

enalapril (ISO)

fulvestrant (EXP)

gentamycin (ISO)

glycidol (ISO)

lead diacetate (ISO)

methapyrilene (EXP)

nickel atom (EXP)

panobinostat (EXP)

paracetamol (EXP)

perfluorooctane-1-sulfonic acid (EXP,ISO)

phenylmercury acetate (EXP)

pirinixic acid (ISO)

potassium dichromate (ISO)

propanal (EXP)

quercetin (EXP)

rotenone (ISO)

SB 431542 (EXP)

sodium arsenite (EXP)

trichostatin A (EXP)

triptonide (ISO)

tris(2-butoxyethyl) phosphate (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

calcium-ion regulated exocytosis (IDA)

insulin secretion involved in cellular response to glucose stimulus (IDA)

positive regulation of amino acid transport (IBA,IEA,ISO)

positive regulation of L-proline import across plasma membrane (IGI)

SNARE complex assembly (IDA)

Cellular Component

brush border membrane (IEA)

cytoplasm (IDA)

extracellular exosome (HDA)

membrane (IEA)

plasma membrane (IBA,IDA,IEA)

Molecular Function

protein binding (IPI)

protein homodimerization activity (IDA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal blistering of the skin (IAGP)

Abnormal urinary color (IAGP)

Abnormality of the eye (IAGP)

Abnormality of vision (IAGP)

Aminoaciduria (IAGP)

Anxiety (IAGP)

Ataxia (IAGP)

Autism (IAGP)

Cutaneous photosensitivity (IAGP)

EEG abnormality (IAGP)

Emotional lability (IAGP)

Gingivitis (IAGP)

Global developmental delay (IAGP)

Glossitis (IAGP)

Hallucinations (IAGP)

Hyperreflexia (IAGP)

Hypopigmented skin patches (IAGP)

Hypotonia (IAGP)

Infectious encephalitis (IAGP)

Intellectual disability (IAGP)

Irregular hyperpigmentation (IAGP)

Malabsorption (IAGP)

Migraine (IAGP)

Neutral hyperaminoaciduria (IAGP)

Nystagmus (IAGP)

Photophobia (IAGP)

Seizure (IAGP)

Short stature (IAGP)

Skin rash (IAGP)

Strabismus (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
4.	Collectrin, a collecting duct-specific transmembrane glycoprotein, is a novel homolog of ACE2 and is developmentally regulated in embryonic kidneys.	Zhang H, etal., J Biol Chem 2001 May 18;276(20):17132-9. Epub 2001 Jan 31.

Additional References at PubMed

PMID:12975309	PMID:15489334	PMID:16330323	PMID:17693757	PMID:18424768	PMID:19056867	PMID:19417552	PMID:19582483	PMID:19763395	PMID:20386877	PMID:21814048	PMID:21873635
PMID:21907142	PMID:21947380	PMID:21988832	PMID:22628310	PMID:22790173	PMID:23376485	PMID:24693993	PMID:25534429	PMID:27417314	PMID:28764560	PMID:32296183	PMID:33845483
PMID:36264884	PMID:36369873

Genomics

Comparative Map Data

CLTRN
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	15,627,318 - 15,675,644 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	15,627,318 - 15,675,012 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	15,645,441 - 15,682,928 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	15,555,372 - 15,593,075 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	15,405,107 - 15,442,811	NCBI
Celera	X	19,760,931 - 19,798,641 (-)	NCBI		Celera
Cytogenetic Map	X	p22.2	NCBI
HuRef	X	13,399,991 - 13,438,249 (-)	NCBI		HuRef
CHM1_1	X	15,676,401 - 15,714,121 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	15,210,303 - 15,247,770 (-)	NCBI		T2T-CHM13v2.0

Cltrn
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	162,873,183 - 162,901,855 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	162,871,826 - 162,901,856 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	164,090,187 - 164,118,859 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	164,088,830 - 164,118,860 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	160,528,119 - 160,556,791 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	159,434,292 - 159,462,964 (+)	NCBI		MGSCv36	mm8
Celera	X	147,304,655 - 147,333,264 (+)	NCBI		Celera
Cytogenetic Map	X	F5	NCBI
cM Map	X	76.12	NCBI

Cltrn
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	X	30,361,967 - 30,395,264 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	30,361,967 - 30,395,349 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	31,394,873 - 31,428,148 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	34,831,861 - 34,865,158 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	31,019,084 - 31,052,359 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	32,118,082 - 32,153,687 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	32,118,054 - 32,153,794 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	32,490,603 - 32,522,780 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	51,118,665 - 51,149,768 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	51,172,133 - 51,203,237 (-)	NCBI
Celera	X	30,705,756 - 30,738,867 (-)	NCBI		Celera
Cytogenetic Map	X	q14	NCBI

Cltrn
(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_004955519	2,522,155 - 2,570,972 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955519	2,522,154 - 2,569,722 (+)	NCBI	ChiLan1.0	ChiLan1.0

CLTRN
(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	X	17,431,727 - 17,469,290 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	8,255,666 - 8,293,354 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	15,537,112 - 15,574,842 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	15,535,069 - 15,575,268 (-)	Ensembl	panpan1.1		panPan2

CLTRN
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	11,863,479 - 11,908,361 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	11,798,839 - 11,900,594 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	11,770,083 - 11,786,549 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	11,824,506 - 11,859,272 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	11,825,149 - 11,861,692 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	11,887,674 - 11,922,326 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	11,881,588 - 11,916,356 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	11,907,346 - 11,941,809 (-)	NCBI		UU_Cfam_GSD_1.0

Cltrn
(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	X	5,040,429 - 5,129,055 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936470	5,040,795 - 5,124,192 (-)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936470	5,040,831 - 5,124,611 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CLTRN
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	12,183,796 - 12,224,964 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	12,183,793 - 12,215,474 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	13,279,802 - 13,292,665 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CLTRN
(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	X	14,103,046 - 14,154,936 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	14,102,497 - 14,154,123 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666056	15,936,757 - 15,975,408 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cltrn
(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_004624829	412,532 - 446,938 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624829	412,797 - 447,076 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CLTRN
2 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2	copy number gain	See cases [RCV000052362]	ChrX:9038047..16646589 [GRCh38] ChrX:9006088..16664712 [GRCh37] ChrX:8966088..16574633 [NCBI36] ChrX:Xp22.31-22.2	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3	copy number gain	See cases [RCV000052328]	ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	copy number loss	See cases [RCV000052981]	ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1	copy number loss	See cases [RCV000052993]	ChrX:253129..23023165 [GRCh38] ChrX:169796..23041282 [GRCh37] ChrX:109796..22951203 [NCBI36] ChrX:Xp22.33-22.11	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]\|See cases [RCV000052970]	ChrX:10679..21811030 [GRCh38] ChrX:60679..21829148 [GRCh37] ChrX:679..21739069 [NCBI36] ChrX:Xp22.33-22.12	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1	copy number loss	See cases [RCV000135299]	ChrX:233335..37292980 [GRCh38] ChrX:150002..37152232 [GRCh37] ChrX:90002..37037153 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2	copy number gain	See cases [RCV000134875]	ChrX:15173626..23952585 [GRCh38] ChrX:15191748..23970702 [GRCh37] ChrX:15101669..23880623 [NCBI36] ChrX:Xp22.2-22.11	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1	copy number loss	See cases [RCV000135551]	ChrX:10679..36186635 [GRCh38] ChrX:60679..36202463 [GRCh37] ChrX:679..36114673 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2	copy number gain	See cases [RCV000135895]	ChrX:2936461..17287323 [GRCh38] ChrX:2854502..17305446 [GRCh37] ChrX:2864502..17215367 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1	copy number loss	See cases [RCV000137252]	ChrX:10679..16187419 [GRCh38] ChrX:60679..16205542 [GRCh37] ChrX:679..16115463 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3	copy number gain	See cases [RCV000137383]	ChrX:10701..21866242 [GRCh38] ChrX:60701..21884360 [GRCh37] ChrX:701..21794281 [NCBI36] ChrX:Xp22.33-22.12	uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	copy number loss	See cases [RCV000137413]	ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	copy number loss	See cases [RCV000137166]	ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1	copy number loss	See cases [RCV000138069]	ChrX:12254555..30410580 [GRCh38] ChrX:12272674..30428697 [GRCh37] ChrX:12182595..30338618 [NCBI36] ChrX:Xp22.2-21.2	pathogenic\|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1	copy number loss	See cases [RCV000138019]	ChrX:10701..37723318 [GRCh38] ChrX:60701..37318587 [GRCh37] ChrX:701..37467510 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1	copy number loss	See cases [RCV000137753]	ChrX:9239101..16721153 [GRCh38] ChrX:9207141..16739276 [GRCh37] ChrX:9167141..16649197 [NCBI36] ChrX:Xp22.31-22.2	uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.2(chrX:15360898-15685709)x2	copy number gain	See cases [RCV000139559]	ChrX:15360898..15685709 [GRCh38] ChrX:15379020..15703832 [GRCh37] ChrX:15288941..15613753 [NCBI36] ChrX:Xp22.2	likely benign
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3	copy number gain	See cases [RCV000141261]	ChrX:3909315..38682287 [GRCh38] ChrX:3827356..38541541 [GRCh37] ChrX:3837356..38426485 [NCBI36] ChrX:Xp22.33-11.4	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1	copy number loss	See cases [RCV000142053]	ChrX:251879..16967290 [GRCh38] ChrX:168546..16985413 [GRCh37] ChrX:108546..16895334 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2	copy number gain	See cases [RCV000143774]	ChrX:12856740..19380317 [GRCh38] ChrX:12874859..19398435 [GRCh37] ChrX:12784780..19308356 [NCBI36] ChrX:Xp22.2-22.12	likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1	copy number loss	See cases [RCV000143496]	ChrX:251879..35885004 [GRCh38] ChrX:168546..35903121 [GRCh37] ChrX:108546..35813042 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	copy number loss	See cases [RCV000240335]	ChrX:71267..35809046 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	copy number gain	See cases [RCV000240441]	ChrX:1378591..25940311 [GRCh37] ChrX:Xp22.33-21.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3	copy number gain	See cases [RCV000449393]	ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1	copy number loss	See cases [RCV000447470]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2(chrX:15445440-16061424)x2	copy number gain	See cases [RCV000445674]	ChrX:15445440..16061424 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	copy number loss	See cases [RCV000510590]	ChrX:168546..37515849 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	copy number loss	See cases [RCV000510308]	ChrX:168546..35841052 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1	copy number loss	See cases [RCV000511350]	ChrX:168546..31085327 [GRCh37] ChrX:Xp22.33-21.2	pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2	copy number gain	See cases [RCV000511443]	ChrX:15290524..29747172 [GRCh37] ChrX:Xp22.2-21.2	likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3	copy number gain	See cases [RCV000512204]	ChrX:168546..24780527 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1	copy number loss	not provided [RCV000684181]	ChrX:168546..16404364 [GRCh37] ChrX:Xp22.33-22.2	pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3	copy number gain	not provided [RCV000684187]	ChrX:201704..20682168 [GRCh37] ChrX:Xp22.33-22.12	pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1	copy number loss	not provided [RCV000684182]	ChrX:168546..18601364 [GRCh37] ChrX:Xp22.33-22.13	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	copy number loss	not provided [RCV000684183]	ChrX:168546..23785738 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.2(chrX:15448015-15714937)x3	copy number gain	not provided [RCV000684276]	ChrX:15448015..15714937 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	copy number loss	not provided [RCV000684184]	ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	copy number loss	not provided [RCV000684185]	ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp22.2(chrX:15486059-16018163)x3	copy number gain	not provided [RCV000684277]	ChrX:15486059..16018163 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1	copy number loss	not provided [RCV000753273]	ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.2(chrX:15290053-16071445)x3	copy number gain	not provided [RCV000753391]	ChrX:15290053..16071445 [GRCh37] ChrX:Xp22.2	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754363]	ChrX:10000..22474705 [GRCh38] ChrX:Xp22.33-22.11	likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	copy number loss	not provided [RCV001007559]	ChrX:168546..34753512 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1	copy number loss	not provided [RCV001007200]	ChrX:168546..17502124 [GRCh37] ChrX:Xp22.33-22.13	pathogenic
Single allele	deletion	Aminoaciduria [RCV000779600]	ChrX:15676526..15720182 [GRCh37] ChrX:Xp22.2	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	copy number gain	not provided [RCV000767802]	ChrX:801301..23768392 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	copy number gain	not provided [RCV000849766]	ChrX:13962918..22148232 [GRCh37] ChrX:Xp22.2-22.11	pathogenic
GRCh37/hg19 Xp22.2(chrX:15674802-16147121)x2	copy number gain	not provided [RCV000848577]	ChrX:15674802..16147121 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	copy number gain	not provided [RCV000849768]	ChrX:13962918..22148232 [GRCh37] ChrX:Xp22.2-22.11	pathogenic
GRCh37/hg19 Xp22.2(chrX:15334953-16221373)x2	copy number gain	not provided [RCV000846122]	ChrX:15334953..16221373 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	copy number loss	not provided [RCV000845671]	ChrX:168546..38054739 [GRCh37] ChrX:Xp22.33-11.4	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787440]	ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2	copy number gain	not provided [RCV000846517]	ChrX:15330714..21915234 [GRCh37] ChrX:Xp22.2-22.11	pathogenic
GRCh37/hg19 Xp22.2(chrX:14897121-15895646)x3	copy number gain	not provided [RCV000846206]	ChrX:14897121..15895646 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.2(chrX:15172188-16136635)x2	copy number gain	not provided [RCV000848087]	ChrX:15172188..16136635 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	copy number gain	not provided [RCV000849574]	ChrX:2190434..23795839 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2	copy number gain	not provided [RCV001007235]	ChrX:1240318..20986848 [GRCh37] ChrX:Xp22.33-22.12	pathogenic
Single allele	deletion	Aminoaciduria [RCV000852384]	ChrX:15677140..15682898 [GRCh37] ChrX:Xp22.2	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_14861689)_(15870650_?)dup	duplication	Fanconi anemia [RCV003122305]\|not provided [RCV003105405]	ChrX:14861689..15870650 [GRCh37] ChrX:Xp22.2	uncertain significance
NC_000023.10:g.(?_15580028)_(15864154_?)dup	duplication	not provided [RCV003107778]	ChrX:15580028..15864154 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	copy number loss	not provided [RCV001007223]	ChrX:537158..22883547 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.2(chrX:15319722-16018163)x2	copy number gain	not provided [RCV001007264]	ChrX:15319722..16018163 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.2(chrX:15674696-16049674)x3	copy number gain	not provided [RCV001007266]	ChrX:15674696..16049674 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.2-22.13(chrX:15415636-18339030)x1	copy number loss	not provided [RCV001007265]	ChrX:15415636..18339030 [GRCh37] ChrX:Xp22.2-22.13	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2(chrX:15445440-16061424)	copy number gain	not specified [RCV002052783]	ChrX:15445440..16061424 [GRCh37] ChrX:Xp22.2	uncertain significance
NC_000023.10:g.(?_14861689)_(15870650_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003122594]	ChrX:14861689..15870650 [GRCh37] ChrX:Xp22.2	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	copy number loss	Turner syndrome [RCV002280669]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2(chrX:15659207-15714937)x0	copy number loss	not provided [RCV002474783]	ChrX:15659207..15714937 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.2(chrX:15608952-15831401)x2	copy number gain	not provided [RCV002474804]	ChrX:15608952..15831401 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.2(chrX:14644702-15779774)x3	copy number gain	not provided [RCV002475875]	ChrX:14644702..15779774 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_020665.6(CLTRN):c.524A>G (p.Glu175Gly)	single nucleotide variant	Inborn genetic diseases [RCV003196419]	ChrX:15628116 [GRCh38] ChrX:15646239 [GRCh37] ChrX:Xp22.2	likely benign
NM_020665.6(CLTRN):c.607A>C (p.Met203Leu)	single nucleotide variant	Inborn genetic diseases [RCV003194704]	ChrX:15628033 [GRCh38] ChrX:15646156 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_020665.6(CLTRN):c.597T>A (p.Asp199Glu)	single nucleotide variant	Inborn genetic diseases [RCV003345219]	ChrX:15628043 [GRCh38] ChrX:15646166 [GRCh37] ChrX:Xp22.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	452
Count of miRNA genes:	358
Interacting mature miRNAs:	375
Transcripts:	ENST00000380342
Prediction methods:	Miranda, Pita, Rnahybrid
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.

Markers in Region

DXS197

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	15,658,764 - 15,659,079	UniSTS	GRCh37
GRCh37	X	15,655,207 - 15,655,470	UniSTS	GRCh37
Build 36	X	15,568,685 - 15,569,000	RGD	NCBI36
Celera	X	19,774,251 - 19,774,566	RGD
Celera	X	19,770,693 - 19,770,956	UniSTS
HuRef	X	13,413,644 - 13,413,959	UniSTS

CHLC.GGAT16F07

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	15,648,210 - 15,648,461	UniSTS	GRCh37
Build 36	X	15,558,131 - 15,558,382	RGD	NCBI36
Celera	X	19,763,700 - 19,763,951	RGD
Cytogenetic Map	X	p22	UniSTS
HuRef	X	13,403,257 - 13,403,508	UniSTS
Whitehead-YAC Contig Map	X		UniSTS

DXS197

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	p22	UniSTS

DXS197

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	p22	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

216

204

205

268

Low

1586

1259

1418

395

470

248

2685

877

2459

128

1328

1397

153

629

1603

Below cutoff

825

1425

1112

1369

1057

1235

158

570

943

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_015970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_020665	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029680	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029681	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024452411	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC003669	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC112497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF229179	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI470468	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313835	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY359060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014317	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC050606	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000380342 ⟹ ENSP00000369699

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	15,627,318 - 15,664,805 (-)	Ensembl

RefSeq Acc Id:

ENST00000650271 ⟹ ENSP00000497814

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	15,627,439 - 15,675,012 (-)	Ensembl

RefSeq Acc Id:

NM_020665 ⟹ NP_065716

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,627,318 - 15,664,805 (-)	NCBI
GRCh37	X	15,645,439 - 15,683,154 (-)	NCBI
Build 36	X	15,555,372 - 15,593,075 (-)	NCBI Archive
Celera	X	19,760,931 - 19,798,641 (-)	RGD
HuRef	X	13,399,991 - 13,438,249 (-)	NCBI
CHM1_1	X	15,676,401 - 15,714,121 (-)	NCBI
T2T-CHM13v2.0	X	15,210,303 - 15,247,770 (-)	NCBI

Sequence:

show sequence

ACTTTGCCTTGTGTTTTCCACCCTGAAAGAATGTTGTGGCTGCTCTTTTTTCTGGTGACTGCCA
TTCATGCTGAACTCTGTCAACCAGGTGCAGAAAATGCTTTTAAAGTGAGACTTAGTATCAGAAC
AGCTCTGGGAGATAAAGCATATGCCTGGGATACCAATGAAGAATACCTCTTCAAAGCGATGGTA
GCTTTCTCCATGAGAAAAGTTCCCAACAGAGAAGCAACAGAAATTTCCCATGTCCTACTTTGCA
ATGTAACCCAGAGGGTATCATTCTGGTTTGTGGTTACAGACCCTTCAAAAAATCACACCCTTCC
TGCTGTTGAGGTGCAATCAGCCATAAGAATGAACAAGAACCGGATCAACAATGCCTTCTTTCTA
AATGACCAAACTCTGGAATTTTTAAAAATCCCTTCCACACTTGCACCACCCATGGACCCATCTG
TGCCCATCTGGATTATTATATTTGGTGTGATATTTTGCATCATCATAGTTGCAATTGCACTACT
GATTTTATCAGGGATCTGGCAACGTAGAAGAAAGAACAAAGAACCATCTGAAGTGGATGACGCT
GAAGATAAGTGTGAAAACATGATCACAATTGAAAATGGCATCCCCTCTGATCCCCTGGACATGA
AGGGAGGGCATATTAATGATGCCTTCATGACAGAGGATGAGAGGCTCACCCCTCTCTGAAGGGC
TGTTGTTCTGCTTCCTCAAGAAATTAAACATTTGTTTCTGTGTGACTGCTGAGCATCCTGAAAT
ACCAAGAGCAGATCATATATTTTGTTTCACCATTCTTCTTTTGTAATAAATTTTGAATGTGCTT
GAAAGTGAAAAGCAATCAATTATACCCACCAACACCACTGAAATCATAAGCTATTCACGACTCA
AAATATTCTAAAATATTTTTCTGACAGTATAGTGTATAAATGTGGTCATGTGGTATTTGTAGTT
ATTGATTTAAGCATTTTTAGAAATAAGATCAGGCATATGTATATATTTTCACACTTCAAAGACC
TAAGGAAAAATAAATTTTCCAGTGGAGAATACATATAATATGGTGTAGAAATCATTGAAAATGG
ATCCTTTTTGACGATCACTTATATCACTCTGTATATGACTAAGTAAACAAAAGTGAGAAGTAAT
TATTGTAAATGGATGGATAAAAATGGAATTACTCATATACAGGGTGGAATTTTATCCTGTTATC
ACACCAACAGTTGATTATATATTTTCTGAATATCAGCCCCTAATAGGACAATTCTATTTGTTGA
CCATTTCTACAATTTGTAAAAGTCCAATCTGTGCTAACTTAATAAAGTAATAATCATCTCTTTT
TGATTGTG

hide sequence

RefSeq Acc Id:

XM_017029680 ⟹ XP_016885169

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,627,318 - 15,675,644 (-)	NCBI

Sequence:

show sequence

CCCAGGCTGAAATCTCGCCCTGGCCACGCTTCCCCAGCGCCGGAGTCCACACCTGCTCTGCGCT
CTGGCTACACATCTCCTGTCGCTGCCACGCGCCTGCACGCTAACTTGCCGACGCCTCTGCCCTC
CGCCTGCTCCACCATCTTTGTTACGCCCCTCAGAGCAACAAGGCACGCCCACACGTGCAGAAAA
TGCTTTTAAAGTGAGACTTAGTATCAGAACAGCTCTGGGAGATAAAGCATATGCCTGGGATACC
AATGAAGAATACCTCTTCAAAGCGATGGTAGCTTTCTCCATGAGAAAAGTTCCCAACAGAGAAG
CAACAGAAATTTCCCATGTCCTACTTTGCAATGTAACCCAGAGGGTATCATTCTGGTTTGTGGT
TACAGACCCTTCAAAAAATCACACCCTTCCTGCTGTTGAGGTGCAATCAGCCATAAGAATGAAC
AAGAACCGGATCAACAATGCCTTCTTTCTAAATGACCAAACTCTGGAATTTTTAAAAATCCCTT
CCACACTTGCACCACCCATGGACCCATCTGTGCCCATCTGGATTATTATATTTGGTGTGATATT
TTGCATCATCATAGTTGCAATTGCACTACTGATTTTATCAGGGATCTGGCAACGTAGAAGAAAG
AACAAAGAACCATCTGAAGTGGATGACGCTGAAGATAAGTGTGAAAACATGATCACAATTGAAA
ATGGCATCCCCTCTGATCCCCTGGACATGAAGGGAGGGCATATTAATGATGCCTTCATGACAGA
GGATGAGAGGCTCACCCCTCTCTGAAGGGCTGTTGTTCTGCTTCCTCAAGAAATTAAACATTTG
TTTCTGTGTGACTGCTGAGCATCCTGAAATACCAAGAGCAGATCATATATTTTGTTTCACCATT
CTTCTTTTGTAATAAATTTTGAATGTGCTTGAAAGTGAAAAGCAATCAATTATACCCACCAACA
CCACTGAAATCATAAGCTATTCACGACTCAAAATATTCTAAAATATTTTTCTGACAGTATAGTG
TATAAATGTGGTCATGTGGTATTTGTAGTTATTGATTTAAGCATTTTTAGAAATAAGATCAGGC
ATATGTATATATTTTCACACTTCAAAGACCTAAGGAAAAATAAATTTTCCAGTGGAGAATACAT
ATAATATGGTGTAGAAATCATTGAAAATGGATCCTTTTTGACGATCACTTATATCACTCTGTAT
ATGACTAAGTAAACAAAAGTGAGAAGTAATTATTGTAAATGGATGGATAAAAATGGAATTACTC
ATATACAGGGTGGAATTTTATCCTGTTATCACACCAACAGTTGATTATATATTTTCTGAATATC
AGCCCCTAATAGGACAATTCTATTTGTTGACCATTTCTACAATTTGTAAAAGTCCAATCTGTGC
TAACTTAATAAAGTAATAATCATCTCTTTTTGATTGTG

hide sequence

RefSeq Acc Id:

XM_017029681 ⟹ XP_016885170

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,627,318 - 15,664,805 (-)	NCBI

Sequence:

show sequence

CCGAAGCTCTCCTGGGATGTTCACCCGCTGTGGTGAGAGTCAGGTGAGGCCCTTCACGGAGGGC
ACCCTTTGTTTACCAGAGAGAAGGGAGTCACGTTTGTTTCCTGAATGAAGATAGCCTATCTAAG
AACCAGGTATCTCAGCCTCGAAAAGGTGGGAAGTGCATGTCAAGGAAACCTCTAGACAGGACTC
AATTCTTCCCATCATACACGTAACCAGAGAATCGCAGAAGGGGTCGGGGAGGATTCCAACTTTG
AGTCAGCAAAGAAGACATTCTTTTGAGGTAGAGTCAGAGTAGGGAAAACAACTAATCTGTTTTC
CAAACAGGTTTTCATAAATAACTGACAGGAGATGGGCTGTTTTTATGGAAGTATTAACCCAAAT
GATGGGTGTTAATCATTAAACCTTTTTGGTGGTGGCTCGCTTGTTTCTCTGATATTCTAATCCG
GGTCACAGAATGGCTAAGGCAGATTTAAGTGCAGCGTGGATTTTTTTTTTCTCACTTTGCCTTG
TGTTTTCCACCCTGAAAGAATGTTGTGGCTGCTCTTTTTTCTGGTGACTGCCATTCATGCTGAA
CTCTGTCAACCAGGTGCAGAAAATGCTTTTAAAGTGAGACTTAGTATCAGAACAGCTCTGGGAG
ATAAAGCATATGCCTGGGATACCAATGAAGAATACCTCTTCAAAGCGATGGTAGCTTTCTCCAT
GAGAAAAGTTCCCAACAGAGAAGCAACAGAAAAGAACAAAGAACCATCTGAAGTGGATGACGCT
GAAGATAAGTGTGAAAACATGATCACAATTGAAAATGGCATCCCCTCTGATCCCCTGGACATGA
AGGGAGGGCATATTAATGATGCCTTCATGACAGAGGATGAGAGGCTCACCCCTCTCTGAAGGGC
TGTTGTTCTGCTTCCTCAAGAAATTAAACATTTGTTTCTGTGTGACTGCTGAGCATCCTGAAAT
ACCAAGAGCAGATCATATATTTTGTTTCACCATTCTTCTTTTGTAATAAATTTTGAATGTGCTT
GAAAGTGAAAAGCAATCAATTATACCCACCAACACCACTGAAATCATAAGCTATTCACGACTCA
AAATATTCTAAAATATTTTTCTGACAGTATAGTGTATAAATGTGGTCATGTGGTATTTGTAGTT
ATTGATTTAAGCATTTTTAGAAATAAGATCAGGCATATGTATATATTTTCACACTTCAAAGACC
TAAGGAAAAATAAATTTTCCAGTGGAGAATACATATAATATGGTGTAGAAATCATTGAAAATGG
ATCCTTTTTGACGATCACTTATATCACTCTGTATATGACTAAGTAAACAAAAGTGAGAAGTAAT
TATTGTAAATGGATGGATAAAAATGGAATTACTCATATACAGGGTGGAATTTTATCCTGTTATC
ACACCAACAGTTGATTATATATTTTCTGAATATCAGCCCCTAATAGGACAATTCTATTTGTTGA
CCATTTCTACAATTTGTAAAAGTCCAATCTGTGCTAACTTAATAAAGTAATAATCATCTCTTTT
TGATTGTG

hide sequence

RefSeq Acc Id:

XM_024452411 ⟹ XP_024308179

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,627,318 - 15,675,385 (-)	NCBI

Sequence:

show sequence

CTGCCTGCGCTCCTCACTGGCGGGGCCGTTCCCGCCGTGGCCGTTCCCACCGTGGCTAACCCCT
TCCATTCTCTCGGAACAGGCAAGACCCCTCTGGTGCAGAAAATGCTTTTAAAGTGAGACTTAGT
ATCAGAACAGCTCTGGGAGATAAAGCATATGCCTGGGATACCAATGAAGAATACCTCTTCAAAG
CGATGGTAGCTTTCTCCATGAGAAAAGTTCCCAACAGAGAAGCAACAGAAATTTCCCATGTCCT
ACTTTGCAATGTAACCCAGAGGGTATCATTCTGGTTTGTGGTTACAGACCCTTCAAAAAATCAC
ACCCTTCCTGCTGTTGAGGTGCAATCAGCCATAAGAATGAACAAGAACCGGATCAACAATGCCT
TCTTTCTAAATGACCAAACTCTGGAATTTTTAAAAATCCCTTCCACACTTGCACCACCCATGGA
CCCATCTGTGCCCATCTGGATTATTATATTTGGTGTGATATTTTGCATCATCATAGTTGCAATT
GCACTACTGATTTTATCAGGGATCTGGCAACGTAGAAGAAAGAACAAAGAACCATCTGAAGTGG
ATGACGCTGAAGATAAGTGTGAAAACATGATCACAATTGAAAATGGCATCCCCTCTGATCCCCT
GGACATGAAGGGAGGGCATATTAATGATGCCTTCATGACAGAGGATGAGAGGCTCACCCCTCTC
TGAAGGGCTGTTGTTCTGCTTCCTCAAGAAATTAAACATTTGTTTCTGTGTGACTGCTGAGCAT
CCTGAAATACCAAGAGCAGATCATATATTTTGTTTCACCATTCTTCTTTTGTAATAAATTTTGA
ATGTGCTTGAAAGTGAAAAGCAATCAATTATACCCACCAACACCACTGAAATCATAAGCTATTC
ACGACTCAAAATATTCTAAAATATTTTTCTGACAGTATAGTGTATAAATGTGGTCATGTGGTAT
TTGTAGTTATTGATTTAAGCATTTTTAGAAATAAGATCAGGCATATGTATATATTTTCACACTT
CAAAGACCTAAGGAAAAATAAATTTTCCAGTGGAGAATACATATAATATGGTGTAGAAATCATT
GAAAATGGATCCTTTTTGACGATCACTTATATCACTCTGTATATGACTAAGTAAACAAAAGTGA
GAAGTAATTATTGTAAATGGATGGATAAAAATGGAATTACTCATATACAGGGTGGAATTTTATC
CTGTTATCACACCAACAGTTGATTATATATTTTCTGAATATCAGCCCCTAATAGGACAATTCTA
TTTGTTGACCATTTCTACAATTTGTAAAAGTCCAATCTGTGCTAACTTAATAAAGTAATAATCA
TCTCTTTTTGATTGTG

hide sequence

RefSeq Acc Id:

XM_054327434 ⟹ XP_054183409

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	15,210,303 - 15,247,770 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_065716	(Get FASTA)	NCBI Sequence Viewer
	XP_016885169	(Get FASTA)	NCBI Sequence Viewer
	XP_016885170	(Get FASTA)	NCBI Sequence Viewer
	XP_024308179	(Get FASTA)	NCBI Sequence Viewer
	XP_054183409	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG09466	(Get FASTA)	NCBI Sequence Viewer
	AAH14317	(Get FASTA)	NCBI Sequence Viewer
	AAH15099	(Get FASTA)	NCBI Sequence Viewer
	AAH50606	(Get FASTA)	NCBI Sequence Viewer
	AAQ89419	(Get FASTA)	NCBI Sequence Viewer
	BAG36568	(Get FASTA)	NCBI Sequence Viewer
	EAW98894	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000369699
	ENSP00000369699.3
	ENSP00000497814
	ENSP00000497814.1
GenBank Protein	Q9HBJ8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_065716 ⟸ NM_020665
- Peptide Label:	precursor
- UniProtKB:	B2R9M1 (UniProtKB/Swiss-Prot), Q6UW07 (UniProtKB/Swiss-Prot), Q9HBJ8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLWLLFFLVTAIHAELCQPGAENAFKVRLSIRTALGDKAYAWDTNEEYLFKAMVAFSMRKVPNR EATEISHVLLCNVTQRVSFWFVVTDPSKNHTLPAVEVQSAIRMNKNRINNAFFLNDQTLEFLKI PSTLAPPMDPSVPIWIIIFGVIFCIIIVAIALLILSGIWQRRRKNKEPSEVDDAEDKCENMITI ENGIPSDPLDMKGGHINDAFMTEDERLTPL hide sequence

RefSeq Acc Id:	XP_016885169 ⟸ XM_017029680
- Peptide Label:	isoform X2
- UniProtKB:	A0A3B3ITM8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVAFSMRKVPNREATEISHVLLCNVTQRVSFWFVVTDPSKNHTLPAVEVQSAIRMNKNRINNAF FLNDQTLEFLKIPSTLAPPMDPSVPIWIIIFGVIFCIIIVAIALLILSGIWQRRRKNKEPSEVD DAEDKCENMITIENGIPSDPLDMKGGHINDAFMTEDERLTPL hide sequence

RefSeq Acc Id:	XP_016885170 ⟸ XM_017029681
- Peptide Label:	isoform X1
- Sequence:	show sequence MLWLLFFLVTAIHAELCQPGAENAFKVRLSIRTALGDKAYAWDTNEEYLFKAMVAFSMRKVPNR EATEKNKEPSEVDDAEDKCENMITIENGIPSDPLDMKGGHINDAFMTEDERLTPL hide sequence

RefSeq Acc Id:	XP_024308179 ⟸ XM_024452411
- Peptide Label:	isoform X2
- UniProtKB:	A0A3B3ITM8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVAFSMRKVPNREATEISHVLLCNVTQRVSFWFVVTDPSKNHTLPAVEVQSAIRMNKNRINNAF FLNDQTLEFLKIPSTLAPPMDPSVPIWIIIFGVIFCIIIVAIALLILSGIWQRRRKNKEPSEVD DAEDKCENMITIENGIPSDPLDMKGGHINDAFMTEDERLTPL hide sequence

RefSeq Acc Id:

ENSP00000497814 ⟸ ENST00000650271

RefSeq Acc Id:

ENSP00000369699 ⟸ ENST00000380342

RefSeq Acc Id:	XP_054183409 ⟸ XM_054327434
- Peptide Label:	isoform X1

Protein Domains

Collectrin Collectrin-like

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9HBJ8-F1-model_v2	AlphaFold	Q9HBJ8	1-222	view protein structure

Promoters

RGD ID:

13604804

Promoter ID:

EPDNEW_H28586

Type:

initiation region

Name:

TMEM27_3

Description:

transmembrane protein 27

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28587 EPDNEW_H28588 EPDNEW_H28591 EPDNEW_H28593

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,664,854 - 15,664,914	EPDNEW

RGD ID:

13604806

Promoter ID:

EPDNEW_H28587

Type:

initiation region

Name:

TMEM27_4

Description:

transmembrane protein 27

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28586 EPDNEW_H28588 EPDNEW_H28591 EPDNEW_H28593

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,665,031 - 15,665,091	EPDNEW

RGD ID:

13604808

Promoter ID:

EPDNEW_H28588

Type:

initiation region

Name:

TMEM27_5

Description:

transmembrane protein 27

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28586 EPDNEW_H28587 EPDNEW_H28591 EPDNEW_H28593

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,665,228 - 15,665,288	EPDNEW

RGD ID:

13604814

Promoter ID:

EPDNEW_H28591

Type:

multiple initiation site

Name:

TMEM27_1

Description:

transmembrane protein 27

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28586 EPDNEW_H28587 EPDNEW_H28588 EPDNEW_H28593

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,675,092 - 15,675,152	EPDNEW

RGD ID:

13604818

Promoter ID:

EPDNEW_H28593

Type:

initiation region

Name:

TMEM27_2

Description:

transmembrane protein 27

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28586 EPDNEW_H28587 EPDNEW_H28588 EPDNEW_H28591

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,675,644 - 15,675,704	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29437	AgrOrtholog
COSMIC	CLTRN	COSMIC
Ensembl Genes	ENSG00000147003	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000380342	ENTREZGENE
	ENST00000380342.4	UniProtKB/Swiss-Prot
	ENST00000650271	ENTREZGENE
	ENST00000650271.1	UniProtKB/TrEMBL
GTEx	ENSG00000147003	GTEx
HGNC ID	HGNC:29437	ENTREZGENE
Human Proteome Map	CLTRN	Human Proteome Map
InterPro	Collectrin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Collectrin_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:57393	UniProtKB/Swiss-Prot
NCBI Gene	57393	ENTREZGENE
OMIM	300631	OMIM
PANTHER	COLLECTRIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR46884	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Collectrin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134994199	PharmGKB
PROSITE	COLLECTRIN_LIKE	UniProtKB/Swiss-Prot
UniProt	A0A3B3ITM8	ENTREZGENE, UniProtKB/TrEMBL
	B2R9M1	ENTREZGENE
	CLTRN_HUMAN	UniProtKB/Swiss-Prot
	Q6UW07	ENTREZGENE
	Q9HBJ8	ENTREZGENE
UniProt Secondary	B2R9M1	UniProtKB/Swiss-Prot
	Q6UW07	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-12-19	CLTRN	collectrin, amino acid transport regulator	TMEM27	transmembrane protein 27	Symbol and/or name change	5135510	APPROVED

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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar