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Gene: Gdf11 (growth differentiation factor 11) Chinchilla lanigera

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Symbol:

Gdf11

Name:

growth differentiation factor 11

RGD ID:

8716432

Description:

INVOLVED IN activin receptor signaling pathway (ortholog); amacrine cell differentiation (ortholog); animal organ morphogenesis (ortholog); ASSOCIATED WITH COVID-19 (ortholog); Myocardial Reperfusion Injury (ortholog); orofacial cleft (ortholog); FOUND IN extracellular space (ortholog); protein-containing complex (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

growth/differentiation factor 11

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

NCBI Annotation Information:

Annotation category: partial on reference assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955458	3,388,402 - 3,398,040 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955458	3,388,402 - 3,398,040 (+)	NCBI	ChiLan1.0	ChiLan1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Gdf11	Chinchilla	COVID-19		ISO	GDF11 (Homo sapiens)	9068941	mRNA:decreased expression:peripheral blood mononuclear cell (human)	RGD	PMID:32228226 and REF_RGD_ID:28912744
Gdf11	Chinchilla	Myocardial Reperfusion Injury		ISO	Gdf11 (Mus musculus)	9068941	mRNA and protein:decreased expression:heart (mouse)	RGD	PMID:30765322 and REF_RGD_ID:329849112

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Gdf11	Chinchilla	orofacial cleft		ISO	GDF11 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Orofacial cleft	ClinVar	PMID:31215115
Gdf11	Chinchilla	vertebral hypersegmentation and orofacial anomalies		ISO	GDF11 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Vertebral hypersegmentation and orofacial anomalies	ClinVar	PMID:25741868 and PMID:31215115

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Gdf11	Chinchilla	vertebral hypersegmentation and orofacial anomalies		ISO	GDF11 (Homo sapiens)	7240710		OMIM

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Gdf11	Chinchilla	activin receptor signaling pathway	involved_in	ISO	GDF11 (Homo sapiens)	9068941	PMID:28257634	GO_Central	PMID:28257634
Gdf11	Chinchilla	amacrine cell differentiation	acts_upstream_of	ISO	Gdf11 (Mus musculus)	9068941	PMID:15976303	MGI	PMID:15976303
Gdf11	Chinchilla	animal organ morphogenesis	acts_upstream_of_or_within	ISO	MGI:2449672	9068941	PMID:15548585	MGI	PMID:15548585
Gdf11	Chinchilla	anterior/posterior pattern specification	acts_upstream_of_or_within	ISO	MGI:5544775	9068941	PMID:23918385	MGI	PMID:23918385
Gdf11	Chinchilla	anterior/posterior pattern specification	acts_upstream_of_or_within	ISO	MGI:2449672	9068941	PMID:10391213	MGI	PMID:10391213
Gdf11	Chinchilla	camera-type eye morphogenesis	acts_upstream_of_or_within	ISO	MGI:2449673	9068941	PMID:15976303	MGI	PMID:15976303
Gdf11	Chinchilla	cell population proliferation	acts_upstream_of	ISO	MGI:2449672	9068941	PMID:15548585	MGI	PMID:15548585
Gdf11	Chinchilla	metanephros development	acts_upstream_of_or_within	ISO	Gdf11 (Mus musculus)	9068941	PMID:12729564	MGI	PMID:12729564
Gdf11	Chinchilla	negative regulation of amacrine cell differentiation	acts_upstream_of_or_within	ISO	Gdf11 (Mus musculus)	9068941	PMID:15976303	MGI	PMID:15976303
Gdf11	Chinchilla	negative regulation of cell population proliferation	acts_upstream_of_or_within	ISO	MGI:2449672	9068941	PMID:15548585	MGI	PMID:15548585
Gdf11	Chinchilla	negative regulation of neuron differentiation		ISO	Gdf11 (Rattus norvegicus)	9068941		RGD	PMID:15988002 and REF_RGD_ID:2316479
Gdf11	Chinchilla	negative regulation of neuron differentiation	acts_upstream_of_or_within	ISO	Gdf11 (Mus musculus)	9068941	PMID:15976303	MGI	PMID:15976303
Gdf11	Chinchilla	neuron differentiation	acts_upstream_of	ISO	Gdf11 (Mus musculus)	9068941	PMID:15976303	MGI	PMID:15976303
Gdf11	Chinchilla	pancreas development	acts_upstream_of_or_within	ISO	MGI:2449672	9068941	PMID:15548585	MGI	PMID:15548585
Gdf11	Chinchilla	positive regulation of SMAD protein signal transduction	involved_in	ISO	GDF11 (Homo sapiens)	9068941	PMID:28257634	UniProt	PMID:28257634
Gdf11	Chinchilla	positive regulation of SMAD protein signal transduction	involved_in	ISO	Gdf11 (Mus musculus)	9068941	PMID:16845371	UniProt	PMID:16845371
Gdf11	Chinchilla	roof of mouth development	acts_upstream_of_or_within	ISO	MGI:2669209	9068941	PMID:24019467	MGI	PMID:24019467
Gdf11	Chinchilla	skeletal system development	acts_upstream_of_or_within	ISO	MGI:2669209 and MGI:2670967	9068941	PMID:24019467	MGI	PMID:24019467
Gdf11	Chinchilla	spinal cord anterior/posterior patterning	acts_upstream_of_or_within	ISO	MGI:2449672	9068941	PMID:16790475	MGI	PMID:16790475
Gdf11	Chinchilla	type B pancreatic cell maturation	acts_upstream_of_or_within	ISO	MGI:2449672	9068941	PMID:15548585	MGI	PMID:15548585
Gdf11	Chinchilla	ureteric bud development	acts_upstream_of_or_within	ISO	MGI:2449672	9068941	PMID:12729564	MGI	PMID:12729564

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Gdf11	Chinchilla	extracellular space	located_in	ISO	Gdf11 (Mus musculus)	9068941	PMID:12729564	MGI	PMID:12729564
Gdf11	Chinchilla	protein-containing complex	part_of	ISO	GDF11 (Homo sapiens)	9068941	PMID:24019467	MGI	PMID:24019467

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Gdf11	Chinchilla	protein binding	enables	ISO	PR:P27040	9068941	PMID:16845371	MGI	PMID:16845371
Gdf11	Chinchilla	protein binding	enables	ISO	UniProtKB:Q8TEU8 and UniProtKB:Q96NZ8	9068941	PMID:18596030	UniProt	PMID:18596030
Gdf11	Chinchilla	protein binding	enables	ISO	UniProtKB:Q13705	9068941	PMID:21054789 and PMID:33961781	IntAct	PMID:21054789 and PMID:33961781
Gdf11	Chinchilla	protein binding	enables	ISO	UniProtKB:P19883-2	9068941	PMID:28257634	UniProt	PMID:28257634

#	Reference Title	Reference Citation
1.	Transitive Annotation Pipeline	Automated assignment of GO, PW and RDO ISO annotations across species

PMID:22301074	PMID:30032202

Gdf11
(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_004955458	3,388,402 - 3,398,040 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955458	3,388,402 - 3,398,040 (+)	NCBI	ChiLan1.0	ChiLan1.0

GDF11
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	55,743,122 - 55,757,264 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	55,743,122 - 55,757,264 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	56,136,906 - 56,151,048 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	54,423,331 - 54,430,332 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	54,423,333 - 54,430,332	NCBI
Celera	12	55,789,534 - 55,799,135 (+)	NCBI		Celera
Cytogenetic Map	12	q13.2	NCBI
HuRef	12	53,175,916 - 53,185,626 (+)	NCBI		HuRef
CHM1_1	12	56,103,813 - 56,113,414 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	55,709,757 - 55,723,906 (+)	NCBI		T2T-CHM13v2.0

Gdf11
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	128,716,393 - 128,727,587 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	128,718,164 - 128,727,587 (-)	Ensembl		GRCm39 Ensembl
GRCm38	10	128,880,524 - 128,891,718 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	128,882,295 - 128,891,718 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	128,321,602 - 128,328,774 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	128,287,495 - 128,294,634 (-)	NCBI		MGSCv36	mm8
Celera	10	131,277,119 - 131,314,308 (-)	NCBI		Celera
Cytogenetic Map	10	D3	NCBI
cM Map	10	77.18	NCBI

Gdf11
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	1,896,229 - 1,909,147 (-)	NCBI		GRCr8
mRatBN7.2	7	1,311,732 - 1,325,211 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	1,311,732 - 1,320,725 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	4,076,094 - 4,085,087 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	5,951,755 - 5,960,748 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	6,253,020 - 6,262,013 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	3,306,863 - 3,315,856 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	3,306,863 - 3,315,856 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	3,277,923 - 3,286,916 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	2,182,467 - 2,191,454 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	2,185,253 - 2,191,265 (-)	NCBI
Celera	7	1,182,487 - 1,191,452 (-)	NCBI		Celera
Cytogenetic Map	7	q11	NCBI

GDF11
(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	10	38,571,240 - 38,585,080 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	38,568,010 - 38,581,811 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	33,154,530 - 33,168,427 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	33,879,143 - 33,893,027 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	33,879,180 - 33,893,252 (-)	Ensembl	panpan1.1		panPan2

GDF11
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	142,039 - 152,537 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	145,036 - 148,373 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	202,146 - 211,966 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	147,013 - 159,810 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	147,013 - 153,803 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	124,694 - 137,481 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	367,790 - 377,596 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	491,709 - 504,497 (+)	NCBI		UU_Cfam_GSD_1.0

Gdf11
(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_024404945	58,643,209 - 58,655,134 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936646	216,946 - 224,321 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936646	215,101 - 227,296 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GDF11
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	21,191,251 - 21,201,804 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	21,191,322 - 21,199,024 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	22,671,244 - 22,678,880 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GDF11
(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	11	51,693,664 - 51,702,781 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	51,693,717 - 51,700,278 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	194,292,055 - 194,300,722 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gdf11
(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 1.0	NW_004624802	12,259,971 - 12,269,440 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	copy number loss	See cases [RCV000052710]	Chr11:78232836..106779420 [GRCh38] Chr11:77943882..106650146 [GRCh37] Chr11:77621530..106155356 [NCBI36] Chr11:11q14.1-22.3	pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	copy number loss	See cases [RCV000052711]	Chr11:85242847..102920097 [GRCh38] Chr11:84953891..102738968 [GRCh37] Chr11:84631539..102296037 [NCBI36] Chr11:11q14.1-22.2	pathogenic
NM_001098672.1(HEPHL1):c.96G>A (p.Gly32=)	single nucleotide variant	Malignant melanoma [RCV000069755]	Chr11:94021464 [GRCh38] Chr11:93754630 [GRCh37] Chr11:93394278 [NCBI36] Chr11:11q21	not provided
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	copy number loss	See cases [RCV000133838]	Chr11:75941754..98357960 [GRCh38] Chr11:75652798..98228688 [GRCh37] Chr11:75330446..97733898 [NCBI36] Chr11:11q13.5-22.1	pathogenic
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1	copy number loss	See cases [RCV000446395]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	copy number loss	See cases [RCV000138038]	Chr11:91086659..109595582 [GRCh38] Chr11:90819827..109466308 [GRCh37] Chr11:90459475..108971518 [NCBI36] Chr11:11q14.3-22.3	pathogenic
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	copy number loss	See cases [RCV000510457]	Chr11:88152458..109414650 [GRCh37] Chr11:11q14.2-22.3	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_001098672.2(HEPHL1):c.1168C>A (p.Leu390Ile)	single nucleotide variant	not specified [RCV004322489]	Chr11:94070478 [GRCh38] Chr11:93803644 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	copy number gain	not provided [RCV000683374]	Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3	pathogenic
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3	copy number gain	not provided [RCV000750120]	Chr11:83179196..94716998 [GRCh37] Chr11:11q14.1-21	pathogenic
NM_001098672.2(HEPHL1):c.751A>G (p.Asn251Asp)	single nucleotide variant	HEPHL1-related disorder [RCV003976037]\|Pili torti-developmental delay-neurological abnormalities syndrome [RCV001702211]\|not provided [RCV004707686]	Chr11:94064453 [GRCh38] Chr11:93797619 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.2262C>T (p.Phe754=)	single nucleotide variant	HEPHL1-related disorder [RCV003930488]\|not provided [RCV000879814]	Chr11:94088936 [GRCh38] Chr11:93822102 [GRCh37] Chr11:11q21	benign\|likely benign
NM_001098672.2(HEPHL1):c.1063G>A (p.Ala355Thr)	single nucleotide variant	Pili torti-developmental delay-neurological abnormalities syndrome [RCV000786055]	Chr11:94067750 [GRCh38] Chr11:93800916 [GRCh37] Chr11:11q21	pathogenic
NM_001098672.2(HEPHL1):c.3176T>C (p.Met1059Thr)	single nucleotide variant	Pili torti-developmental delay-neurological abnormalities syndrome [RCV000786056]	Chr11:94111033 [GRCh38] Chr11:93844199 [GRCh37] Chr11:11q21	pathogenic
GRCh37/hg19 11q21(chr11:93297444-94041273)x3	copy number gain	not provided [RCV001006434]	Chr11:93297444..94041273 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.100G>T (p.Val34Leu)	single nucleotide variant	not specified [RCV004288093]	Chr11:94021468 [GRCh38] Chr11:93754634 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1	copy number loss	not provided [RCV000737595]	Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2	pathogenic
NM_001098672.2(HEPHL1):c.715T>C (p.Trp239Arg)	single nucleotide variant	not specified [RCV004302986]	Chr11:94064417 [GRCh38] Chr11:93797583 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3361A>G (p.Ile1121Val)	single nucleotide variant	not specified [RCV004319326]	Chr11:94111775 [GRCh38] Chr11:93844941 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2427A>T (p.Glu809Asp)	single nucleotide variant	not specified [RCV004286122]	Chr11:94093633 [GRCh38] Chr11:93826799 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2140T>C (p.Tyr714His)	single nucleotide variant	not specified [RCV004295298]	Chr11:94088814 [GRCh38] Chr11:93821980 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3046-35G>T	single nucleotide variant	Pili torti-developmental delay-neurological abnormalities syndrome [RCV001702348]\|not provided [RCV004707688]	Chr11:94110868 [GRCh38] Chr11:93844034 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.2968A>C (p.Asn990His)	single nucleotide variant	not provided [RCV001280792]\|not specified [RCV004035516]	Chr11:94106053 [GRCh38] Chr11:93839219 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2857C>T (p.Arg953Ter)	single nucleotide variant	not provided [RCV001280796]	Chr11:94104702 [GRCh38] Chr11:93837868 [GRCh37] Chr11:11q21	likely pathogenic
NM_001098672.2(HEPHL1):c.3050A>G (p.Asp1017Gly)	single nucleotide variant	Pili torti-developmental delay-neurological abnormalities syndrome [RCV001375938]	Chr11:94110907 [GRCh38] Chr11:93844073 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1232+9C>G	single nucleotide variant	HEPHL1-related disorder [RCV003976038]\|Pili torti-developmental delay-neurological abnormalities syndrome [RCV001702347]\|not provided [RCV004707687]	Chr11:94070551 [GRCh38] Chr11:93803717 [GRCh37] Chr11:11q21	benign
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	copy number loss	not specified [RCV002052940]	Chr11:77855209..98002445 [GRCh37] Chr11:11q14.1-22.1	pathogenic
GRCh37/hg19 11q21(chr11:93651515-93827032)x1	copy number loss	not provided [RCV001832919]	Chr11:93651515..93827032 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	copy number loss	not specified [RCV002052941]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	copy number loss	not provided [RCV001832892]	Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3	uncertain significance
GRCh37/hg19 11q21(chr11:93475922-93778658)x1	copy number loss	not provided [RCV001834357]	Chr11:93475922..93778658 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.364C>T (p.Arg122Ter)	single nucleotide variant	not provided [RCV002223611]	Chr11:94045866 [GRCh38] Chr11:93779032 [GRCh37] Chr11:11q21	likely pathogenic
NM_001098672.2(HEPHL1):c.3280C>T (p.Arg1094Ter)	single nucleotide variant	Lichen planopilaris [RCV002251777]	Chr11:94111694 [GRCh38] Chr11:93844860 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1808G>A (p.Trp603Ter)	single nucleotide variant	not provided [RCV002275490]	Chr11:94082509 [GRCh38] Chr11:93815675 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
NC_000011.9:g.(93754705_93778838)_(93779084_93796673)del	deletion	Pili torti-developmental delay-neurological abnormalities syndrome [RCV002283425]	Chr11:93778838..93779084 [GRCh37] Chr11:11q21	likely pathogenic
NM_001098672.2(HEPHL1):c.1357C>T (p.His453Tyr)	single nucleotide variant	not specified [RCV004214211]	Chr11:94073149 [GRCh38] Chr11:93806315 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3061C>G (p.Arg1021Gly)	single nucleotide variant	not provided [RCV004695669]\|not specified [RCV004202468]	Chr11:94110918 [GRCh38] Chr11:93844084 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3212A>G (p.Asn1071Ser)	single nucleotide variant	not specified [RCV004217207]	Chr11:94111540 [GRCh38] Chr11:93844706 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3185C>G (p.Thr1062Ser)	single nucleotide variant	not specified [RCV004144237]	Chr11:94111042 [GRCh38] Chr11:93844208 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2262C>G (p.Phe754Leu)	single nucleotide variant	not specified [RCV004206339]	Chr11:94088936 [GRCh38] Chr11:93822102 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3449A>C (p.Gln1150Pro)	single nucleotide variant	not specified [RCV004103613]	Chr11:94111863 [GRCh38] Chr11:93845029 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.991C>T (p.Leu331Phe)	single nucleotide variant	not specified [RCV004126009]	Chr11:94067678 [GRCh38] Chr11:93800844 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3403C>A (p.Leu1135Ile)	single nucleotide variant	not specified [RCV004196239]	Chr11:94111817 [GRCh38] Chr11:93844983 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1498C>G (p.Leu500Val)	single nucleotide variant	not specified [RCV004197469]	Chr11:94073433 [GRCh38] Chr11:93806599 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.7C>T (p.Arg3Trp)	single nucleotide variant	not specified [RCV004119599]	Chr11:94021375 [GRCh38] Chr11:93754541 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1549A>G (p.Thr517Ala)	single nucleotide variant	not specified [RCV004143047]	Chr11:94075218 [GRCh38] Chr11:93808384 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2467G>A (p.Val823Ile)	single nucleotide variant	not specified [RCV004166698]	Chr11:94101227 [GRCh38] Chr11:93834393 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.2114A>G (p.His705Arg)	single nucleotide variant	not specified [RCV004099375]	Chr11:94088788 [GRCh38] Chr11:93821954 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.204C>G (p.Asn68Lys)	single nucleotide variant	not specified [RCV004227998]	Chr11:94045706 [GRCh38] Chr11:93778872 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.997A>G (p.Thr333Ala)	single nucleotide variant	not specified [RCV004158794]	Chr11:94067684 [GRCh38] Chr11:93800850 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2564T>A (p.Met855Lys)	single nucleotide variant	not specified [RCV004076223]	Chr11:94101324 [GRCh38] Chr11:93834490 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1304A>G (p.Glu435Gly)	single nucleotide variant	not specified [RCV004101390]	Chr11:94073096 [GRCh38] Chr11:93806262 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1221C>A (p.Asn407Lys)	single nucleotide variant	not specified [RCV004142996]	Chr11:94070531 [GRCh38] Chr11:93803697 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1813C>T (p.Pro605Ser)	single nucleotide variant	not specified [RCV004182717]	Chr11:94082514 [GRCh38] Chr11:93815680 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2317C>T (p.Arg773Cys)	single nucleotide variant	not specified [RCV004238935]	Chr11:94093523 [GRCh38] Chr11:93826689 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.287G>C (p.Trp96Ser)	single nucleotide variant	not specified [RCV004176261]	Chr11:94045789 [GRCh38] Chr11:93778955 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2889A>T (p.Glu963Asp)	single nucleotide variant	not specified [RCV004174722]	Chr11:94104734 [GRCh38] Chr11:93837900 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1303G>C (p.Glu435Gln)	single nucleotide variant	not specified [RCV004173098]	Chr11:94073095 [GRCh38] Chr11:93806261 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.257C>T (p.Thr86Ile)	single nucleotide variant	not specified [RCV004095590]	Chr11:94045759 [GRCh38] Chr11:93778925 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3043A>G (p.Lys1015Glu)	single nucleotide variant	not specified [RCV004305881]	Chr11:94106128 [GRCh38] Chr11:93839294 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2225T>C (p.Val742Ala)	single nucleotide variant	not specified [RCV004251739]	Chr11:94088899 [GRCh38] Chr11:93822065 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.518C>A (p.Ala173Glu)	single nucleotide variant	not specified [RCV004275568]	Chr11:94063610 [GRCh38] Chr11:93796776 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1219A>C (p.Asn407His)	single nucleotide variant	not specified [RCV004270487]	Chr11:94070529 [GRCh38] Chr11:93803695 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2044A>G (p.Met682Val)	single nucleotide variant	not specified [RCV004267435]	Chr11:94086153 [GRCh38] Chr11:93819319 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.228G>T (p.Lys76Asn)	single nucleotide variant	not specified [RCV004321086]	Chr11:94045730 [GRCh38] Chr11:93778896 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1576G>A (p.Val526Ile)	single nucleotide variant	not specified [RCV004302765]	Chr11:94075245 [GRCh38] Chr11:93808411 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3192G>A (p.Thr1064=)	single nucleotide variant	not provided [RCV003396018]	Chr11:94111049 [GRCh38] Chr11:93844215 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3085C>T (p.Pro1029Ser)	single nucleotide variant	not provided [RCV003456789]	Chr11:94110942 [GRCh38] Chr11:93844108 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.851T>C (p.Met284Thr)	single nucleotide variant	not provided [RCV003396017]	Chr11:94067538 [GRCh38] Chr11:93800704 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.573C>T (p.Asp191=)	single nucleotide variant	not provided [RCV003390122]	Chr11:94063665 [GRCh38] Chr11:93796831 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3270A>G (p.Pro1090=)	single nucleotide variant	not provided [RCV003396019]	Chr11:94111598 [GRCh38] Chr11:93844764 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.391G>A (p.Val131Ile)	single nucleotide variant	not provided [RCV003456788]	Chr11:94045893 [GRCh38] Chr11:93779059 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2607T>C (p.Pro869=)	single nucleotide variant	HEPHL1-related disorder [RCV003929034]\|not provided [RCV003390123]	Chr11:94102945 [GRCh38] Chr11:93836111 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.671G>A (p.Arg224Gln)	single nucleotide variant	HEPHL1-related disorder [RCV003976739]	Chr11:94064373 [GRCh38] Chr11:93797539 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.2043C>T (p.His681=)	single nucleotide variant	HEPHL1-related disorder [RCV003959794]	Chr11:94086152 [GRCh38] Chr11:93819318 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3228C>T (p.Ser1076=)	single nucleotide variant	HEPHL1-related disorder [RCV003979118]	Chr11:94111556 [GRCh38] Chr11:93844722 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.1122G>C (p.Lys374Asn)	single nucleotide variant	HEPHL1-related disorder [RCV003964500]	Chr11:94070432 [GRCh38] Chr11:93803598 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.241C>T (p.Arg81Cys)	single nucleotide variant	HEPHL1-related disorder [RCV003894775]	Chr11:94045743 [GRCh38] Chr11:93778909 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.2760C>A (p.Asp920Glu)	single nucleotide variant	HEPHL1-related disorder [RCV003921986]	Chr11:94104605 [GRCh38] Chr11:93837771 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.2109G>T (p.Met703Ile)	single nucleotide variant	HEPHL1-related disorder [RCV003922316]	Chr11:94088783 [GRCh38] Chr11:93821949 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3409C>T (p.Leu1137Phe)	single nucleotide variant	HEPHL1-related disorder [RCV003976594]	Chr11:94111823 [GRCh38] Chr11:93844989 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.3390G>A (p.Thr1130=)	single nucleotide variant	HEPHL1-related disorder [RCV003919818]\|not provided [RCV004810587]	Chr11:94111804 [GRCh38] Chr11:93844970 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.524C>T (p.Thr175Ile)	single nucleotide variant	HEPHL1-related disorder [RCV003942316]	Chr11:94063616 [GRCh38] Chr11:93796782 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.2411G>T (p.Arg804Leu)	single nucleotide variant	not specified [RCV004404135]	Chr11:94093617 [GRCh38] Chr11:93826783 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1012G>A (p.Glu338Lys)	single nucleotide variant	not specified [RCV004282293]	Chr11:94067699 [GRCh38] Chr11:93800865 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q21(chr11:93676223-94342737)x3	copy number gain	not provided [RCV001260146]	Chr11:93676223..94342737 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	copy number gain	not specified [RCV002052947]	Chr11:90906452..94437087 [GRCh37] Chr11:11q14.3-21	uncertain significance
NM_001098672.2(HEPHL1):c.2993G>A (p.Ser998Asn)	single nucleotide variant	not provided [RCV002224882]	Chr11:94106078 [GRCh38] Chr11:93839244 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1505-12_1511del	deletion	not provided [RCV002224881]	Chr11:94075157..94075175 [GRCh38] Chr11:93808323..93808341 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	copy number loss	not provided [RCV002475722]	Chr11:81478509..104667040 [GRCh37] Chr11:11q14.1-22.3	pathogenic
NM_001098672.2(HEPHL1):c.2210T>A (p.Ile737Asn)	single nucleotide variant	not specified [RCV004178174]	Chr11:94088884 [GRCh38] Chr11:93822050 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1976T>C (p.Ile659Thr)	single nucleotide variant	not specified [RCV004090930]	Chr11:94086085 [GRCh38] Chr11:93819251 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2023T>C (p.Ser675Pro)	single nucleotide variant	not specified [RCV004118287]	Chr11:94086132 [GRCh38] Chr11:93819298 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2206T>C (p.Tyr736His)	single nucleotide variant	not specified [RCV004231458]	Chr11:94088880 [GRCh38] Chr11:93822046 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1540G>A (p.Glu514Lys)	single nucleotide variant	not specified [RCV004071251]	Chr11:94075209 [GRCh38] Chr11:93808375 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.219T>G (p.Ile73Met)	single nucleotide variant	not specified [RCV004263743]	Chr11:94045721 [GRCh38] Chr11:93778887 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1968G>A (p.Met656Ile)	single nucleotide variant	not specified [RCV004277524]	Chr11:94086077 [GRCh38] Chr11:93819243 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.641_644dup (p.Tyr215Ter)	duplication	Pili torti-developmental delay-neurological abnormalities syndrome [RCV003340777]	Chr11:94064339..94064340 [GRCh38] Chr11:93797505..93797506 [GRCh37] Chr11:11q21	likely pathogenic
NM_001098672.2(HEPHL1):c.2816A>G (p.Tyr939Cys)	single nucleotide variant	not specified [RCV004347367]	Chr11:94104661 [GRCh38] Chr11:93837827 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2321C>T (p.Thr774Ile)	single nucleotide variant	not specified [RCV004337271]	Chr11:94093527 [GRCh38] Chr11:93826693 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.285C>G (p.Pro95=)	single nucleotide variant	not provided [RCV003396016]	Chr11:94045787 [GRCh38] Chr11:93778953 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.1295G>A (p.Arg432Gln)	single nucleotide variant	HEPHL1-related disorder [RCV003917158]	Chr11:94073087 [GRCh38] Chr11:93806253 [GRCh37] Chr11:11q21	benign
NM_001098672.2(HEPHL1):c.124C>T (p.Pro42Ser)	single nucleotide variant	not specified [RCV004404124]	Chr11:94021492 [GRCh38] Chr11:93754658 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1257A>C (p.Gln419His)	single nucleotide variant	not specified [RCV004404125]	Chr11:94073049 [GRCh38] Chr11:93806215 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1283A>G (p.Tyr428Cys)	single nucleotide variant	not specified [RCV004404127]	Chr11:94073075 [GRCh38] Chr11:93806241 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1396G>A (p.Gly466Ser)	single nucleotide variant	not specified [RCV004404128]	Chr11:94073331 [GRCh38] Chr11:93806497 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2281G>T (p.Ala761Ser)	single nucleotide variant	not specified [RCV004404132]	Chr11:94088955 [GRCh38] Chr11:93822121 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2327A>G (p.Asn776Ser)	single nucleotide variant	not specified [RCV004404133]	Chr11:94093533 [GRCh38] Chr11:93826699 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2638A>G (p.Asn880Asp)	single nucleotide variant	not specified [RCV004404137]	Chr11:94102976 [GRCh38] Chr11:93836142 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3254A>G (p.His1085Arg)	single nucleotide variant	not specified [RCV004404140]	Chr11:94111582 [GRCh38] Chr11:93844748 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3269C>T (p.Pro1090Leu)	single nucleotide variant	not specified [RCV004404141]	Chr11:94111597 [GRCh38] Chr11:93844763 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3365T>C (p.Ile1122Thr)	single nucleotide variant	not specified [RCV004404142]	Chr11:94111779 [GRCh38] Chr11:93844945 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3458C>A (p.Ala1153Asp)	single nucleotide variant	not specified [RCV004404144]	Chr11:94111872 [GRCh38] Chr11:93845038 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.443G>C (p.Gly148Ala)	single nucleotide variant	not specified [RCV004404145]	Chr11:94063535 [GRCh38] Chr11:93796701 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.44T>C (p.Phe15Ser)	single nucleotide variant	not specified [RCV004404146]	Chr11:94021412 [GRCh38] Chr11:93754578 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.713G>C (p.Ser238Thr)	single nucleotide variant	not specified [RCV004404147]	Chr11:94064415 [GRCh38] Chr11:93797581 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.852G>A (p.Met284Ile)	single nucleotide variant	not specified [RCV004404148]	Chr11:94067539 [GRCh38] Chr11:93800705 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1140G>T (p.Arg380Ser)	single nucleotide variant	not specified [RCV004404120]	Chr11:94070450 [GRCh38] Chr11:93803616 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1142G>A (p.Arg381His)	single nucleotide variant	not specified [RCV004404122]	Chr11:94070452 [GRCh38] Chr11:93803618 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.1222G>A (p.Ala408Thr)	single nucleotide variant	not specified [RCV004404123]	Chr11:94070532 [GRCh38] Chr11:93803698 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1271T>C (p.Ile424Thr)	single nucleotide variant	not specified [RCV004404126]	Chr11:94073063 [GRCh38] Chr11:93806229 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1484A>T (p.Asp495Val)	single nucleotide variant	not specified [RCV004404129]	Chr11:94073419 [GRCh38] Chr11:93806585 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1853C>T (p.Ser618Phe)	single nucleotide variant	not specified [RCV004404130]	Chr11:94082554 [GRCh38] Chr11:93815720 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.215G>A (p.Ser72Asn)	single nucleotide variant	not specified [RCV004404131]	Chr11:94045717 [GRCh38] Chr11:93778883 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2357T>C (p.Val786Ala)	single nucleotide variant	not specified [RCV004404134]	Chr11:94093563 [GRCh38] Chr11:93826729 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3226T>C (p.Ser1076Pro)	single nucleotide variant	not specified [RCV004404139]	Chr11:94111554 [GRCh38] Chr11:93844720 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.299T>G (p.Leu100Arg)	single nucleotide variant	not specified [RCV004630395]	Chr11:94045801 [GRCh38] Chr11:93778967 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1898C>G (p.Pro633Arg)	single nucleotide variant	not specified [RCV004630402]	Chr11:94086007 [GRCh38] Chr11:93819173 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2245A>C (p.Asn749His)	single nucleotide variant	not specified [RCV004630403]	Chr11:94088919 [GRCh38] Chr11:93822085 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3218T>C (p.Ile1073Thr)	single nucleotide variant	not specified [RCV004630404]	Chr11:94111546 [GRCh38] Chr11:93844712 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2762T>C (p.Val921Ala)	single nucleotide variant	not specified [RCV004626176]	Chr11:94104607 [GRCh38] Chr11:93837773 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.661G>T (p.Asp221Tyr)	single nucleotide variant	not specified [RCV004626177]	Chr11:94064363 [GRCh38] Chr11:93797529 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.242G>A (p.Arg81His)	single nucleotide variant	not specified [RCV004630393]	Chr11:94045744 [GRCh38] Chr11:93778910 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3169G>T (p.Ala1057Ser)	single nucleotide variant	not specified [RCV004630394]	Chr11:94111026 [GRCh38] Chr11:93844192 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2723G>T (p.Arg908Leu)	single nucleotide variant	not specified [RCV004630396]	Chr11:94104568 [GRCh38] Chr11:93837734 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1189G>A (p.Gly397Ser)	single nucleotide variant	not specified [RCV004630397]	Chr11:94070499 [GRCh38] Chr11:93803665 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3389C>T (p.Thr1130Met)	single nucleotide variant	not specified [RCV004630398]	Chr11:94111803 [GRCh38] Chr11:93844969 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2615C>A (p.Ser872Tyr)	single nucleotide variant	not specified [RCV004630399]	Chr11:94102953 [GRCh38] Chr11:93836119 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2018G>A (p.Arg673Gln)	single nucleotide variant	not specified [RCV004630400]	Chr11:94086127 [GRCh38] Chr11:93819293 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2838G>T (p.Lys946Asn)	single nucleotide variant	not specified [RCV004630401]	Chr11:94104683 [GRCh38] Chr11:93837849 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.1967T>C (p.Met656Thr)	single nucleotide variant	not specified [RCV004925763]	Chr11:94086076 [GRCh38] Chr11:93819242 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.1-22.1(chr11:81041448-98151664)x1	copy number loss	not provided [RCV004819372]	Chr11:81041448..98151664 [GRCh37] Chr11:11q14.1-22.1	pathogenic
NM_001098672.2(HEPHL1):c.2839T>C (p.Tyr947His)	single nucleotide variant	not specified [RCV004925759]	Chr11:94104684 [GRCh38] Chr11:93837850 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.380A>C (p.His127Pro)	single nucleotide variant	not specified [RCV004925760]	Chr11:94045882 [GRCh38] Chr11:93779048 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.490T>G (p.Tyr164Asp)	single nucleotide variant	not specified [RCV004925761]	Chr11:94063582 [GRCh38] Chr11:93796748 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3241G>A (p.Gly1081Arg)	single nucleotide variant	not specified [RCV004925762]	Chr11:94111569 [GRCh38] Chr11:93844735 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.2497A>G (p.Arg833Gly)	single nucleotide variant	not specified [RCV004925764]	Chr11:94101257 [GRCh38] Chr11:93834423 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3124C>T (p.Pro1042Ser)	single nucleotide variant	not specified [RCV004925765]	Chr11:94110981 [GRCh38] Chr11:93844147 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.935C>A (p.Thr312Asn)	single nucleotide variant	not specified [RCV004925766]	Chr11:94067622 [GRCh38] Chr11:93800788 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.3077A>G (p.Asp1026Gly)	single nucleotide variant	not specified [RCV004925767]	Chr11:94110934 [GRCh38] Chr11:93844100 [GRCh37] Chr11:11q21	uncertain significance
NM_001098672.2(HEPHL1):c.631A>G (p.Ile211Val)	single nucleotide variant	not specified [RCV004925768]	Chr11:94064333 [GRCh38] Chr11:93797499 [GRCh37] Chr11:11q21	likely benign
NM_001098672.2(HEPHL1):c.3094T>C (p.Phe1032Leu)	single nucleotide variant	not specified [RCV004925769]	Chr11:94110951 [GRCh38] Chr11:93844117 [GRCh37] Chr11:11q21	uncertain significance

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


RefSeq Transcripts	XM_005397510	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01047301	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBBH01160450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBDJ01213704	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCLAT00000016765 ⟹ ENSCLAP00000016601

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955458	3,388,402 - 3,398,040 (+)	Ensembl

RefSeq Acc Id:

XM_005397510 ⟹ XP_005397567

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955458	3,388,402 - 3,398,040 (+)	NCBI

Sequence:

show sequence

GGGGGGGGCCGGGGCCGGGGCCGGGGGGGAGCGCGCCGGCCGGCCGGCCCCGTCCGCGGCGCCCGAGCCGGACGGCTGCCCCGTGTGCGTGTGGCGGCAGCACAGCCGCGAGCTGCGCCTGGAGAGCA
TCAAGTCGCAGATCCTGAGCAAACTGCGGCTCAAGGAGGCGCCCAACATCAGCCGCGAGGTGGTGAAGCAGCTGCTGCCCAAGGCGCCGCCGCTGCAGCAGATCCTGGACCTGCACGACTTCCAGGGC
GACGCGCTGCAGCCCGAGGACTTCCTGGAGGAGGACGAGTACCACGCCACCACCGAGACCGTCATCAGCATGGCCCAGGAGACGGACCCCGCAGTGCAGACAGATGGCAGCCCTCTCTGTTGCCATTT
CCACTTCAGCCCCAAGGTGATGTTCACAAAGGTACTGAAGGCCCAGCTGTGGGTGTACCTTCGGCCCGTGCCCCGCCCAGCCACAGTCTACCTGCAGATCTTGCGACTGAAACCCCTAACTGGGGAAG
GGACTGCAGGGGGAGGGGGTGGAGGCCGGCGTCACATCCGTATCCGTTCACTCAAGATTGAGCTGCACTCGCGCTCCGGCCACTGGCAGAGCATCGACTTCAAGCAAGTGCTACACAGCTGGTTCCGC
CAGCCACAGAGCAACTGGGGCATCGAGATCAACGCCTTTGATCCCAGTGGCACAGACCTGGCTGTCACCTCCTTGGGGCCAGGAGCTGAGGGGCTGCATCCTTTCATGGAGCTTCGAGTCCTGGAGAA
CACCAAGCGGTCCCGGCGGAACCTGGGCCTGGATTGTGACGAGCACTCCAGCGAGTCCCGCTGCTGCCGATACCCCCTCACAGTGGACTTCGAGGCTTTCGGCTGGGACTGGATCATCGCACCTAAGC
GCTACAAGGCCAACTACTGCTCCGGCCAGTGCGAGTACATGTTCATGCAGAAGTACCCACACACCCACTTGGTGCAGCAGGCCAATCCGAGGGGCTCTGCCGGGCCCTGCTGCACCCCTACCAAGATG
TCCCCGATCAACATGCTCTACTTCAATGACAAGCAGCAGATTATCTACGGCAAGATCCCTGGCATGGTGGTGGATCGCTGTGGCTGCTCCTAAGGTGGGGGACAGTGGATGCCGCCCCCACAGACCCT
CCCCTGAGACCCCGGCCCTGCCCCTCCCCCCAGGCCCTAGAGCTCCCTCCACCTCTTCCCATGAACATCACACCATGTTCCCTGACCAAGCAGTGTGCAATACACCCGAGGGAGGCAGGTGGGGGCCG
AAGGGGAGGGGCTGGGAGGAAGGGAGAGGCGGGGCACGGTCAGGGTGGAGCGTTTGAGGTTTGTAGGCGAGAAGGTTTGGCAGGGAGACAGAGAGATGTAGACAGAGGGATGGAGACAGAGGAACACA
CAGAGCAGCACTGAGAAGGCAAAGGAATGGAGAGGCAGAGGAGACAGGCGAGGCAGAGACAAACACTGGGAGAGACCGGCATGGAGTAATAAATGAGCGCCCCGCTCCAAGCCGCCTTCCTTCCACTG
GCAAGGTGAGGGGCTTGAGTCTGGGGAGACCCCTGACTACTCAGTAAGAGAGATCTACCCACTCTCAGCTTCTTCCCGCGCTTCCTCCAGCCGTGGCGGGGAAGGGGAGTGAGGGCAGGGGCAAAGGG
TTCGGGAATCTTATTTATTTATTTATTGTGACTTTTCATTTGTTGGTATTTGGCTTTACTGGACTAGGAGGGCCCCTGCCCACTACGCCCCGTTTGTCCCTTATTCCCTAAACCCTGCTCCTCCCCCA
TGCCCACCCGCTTAAGCACTTGTATAAAGCCTCCAGGGTTGGGAATGGGGTAAAGGGCAAGAGGGCTGACACATGTGAGTTTCTAACCCCTAAGTACCCTAACCAACCTGCGGCCAACTGAACGGCGT
GGACGCAGGAACGGGCTAGGGTTTAAGAGCTGGAGAAAGGCGAGTCCTCAACATCCACGAGCTATGGAGCTACTAACCCTCAGGCCAGCATTCTTCATGGTACTGATGTACTTAGCCAGAAGGTACAG
CCTGCTTAAACCCAAATTCCCCTCAGCAGAGAGAGACCAAAGAGCCTGTGGAATGTCCCTGCTCCCAGCCTCTATCTTCAGGTCAATGGAAAAAAAAAAAAAAAAAAAGATCCCAGAGTCCCCCAGGT
CTGGGAAGGATTTGGAGGGGTCAAGAAAGGAGTGGTTAAGTAGGCTGAAGGTTACAGGGCATCTGAATCCAAATCACTGCTCTGGGCTAGGGAATAGGGCCAACAGACCAAGGTGGAAGGGATTCTGC
AGGGGGACACTGTAGTCCCCCCACCCCAAAGCTCAGGGTAGAAGGAGGGCAAACAAGGGAGCAGAGTGTCTATAATTTTTATTTTTTATTTTTGGAATATAGCAGTATCTGGCAGCAGGGAGGGAACA
GTACAGTGGGGACAGGCATCTGCAAGGCCGGTTACAGCGGAGGACGGGAAGGACAGACTCCCTGGGTTGGAAGCTAGGAAGCAGCAGACTGACTGCCACTGCAAGTCATTAGCTGGGCCCACTCATTC
CTCCCACAATCCCAGCGCACCCTCCTCTGGACTCGCTGGGCCTCAGTTTCTTCCCCTCAATGGAAAGAGAAATAGCAGCACCCGCCACAGCCAAGAGATGAATTCTGAGCACTTACCACGGGCACTTT
ATGGACATAAAATACCTCTCGCTGTGGGACCACATAACCAGGGCACCAGAGCAGTGGTGAAGAGATTGAGGCTTAGAGGAGTCACAGGCTTCAGAGAATCCAAGTTCCCTGCTGCCTGCCAGCTGGAG
AGTGCCTGAGTTGAGAATCTCCACACCCTATCCATACCTCACCCACGGACCTCTTGGCTCCAGGCTAGAGCCTAGAGGACGTCAGGAGACGGGGCTGAAAACCTGCAGCAAATTCCCACTCTTAAGTA
AATCCAACAGTGATGGTCTGGTGGAAACGGTACTGAACTGAAGCAAAGCCCATGCCGGAGAGCAAACCCGGAAGGCTAGTTCCTCCTAAGGGCGTCTCTCTCCCGCTTGGACCAGACCATGGAAGGGA
CAAAGGTACGTGGTCACCTTGGGAAGGTAATGCTGAGCTTGAGCGTCTTACACCTATTCTCATAATGAGAAAATGAGACAAGGTGTTTCAGCAGAGGAATAAGGAGGAGCTGTTACGCTTTCCAACTA
ACCTCCCGGACAGCAGCTACGCTAACCCAAGCCTCTCCTCTCCAGCCCTGCTCGTCACCCTTCTGCCTCAACGGAGAGTAAGACACCTCACCATCGATGCATTCACATTTCTTTGGTAGGAGAGGGGC
AGGAGAGTGAAGAAAATGCTTCCCCCAAGATCAAGTATCTCTCGATCTTGGACAGGGTAGGGTTGGGCAGTAGGCATCAGGTAACTTCCCTCCACAGTCGAGAGCTGGGGCACTACACAACATACTGC
CCCTTTAGACCACCAAATAAAGACCTTTGCAGGGGAGGAGGAGGAGTTTCTCTTACAAGTGTAAGTCTAGGAGCTGAAGTCTCGGTCCCGTTCATCCCTATCCCCAAAGAGCATGGGATGAAGGGGCT
GGGGGACACAGTCCAGCAACCTGGAGGGAGCACCCCTCCTCCACCTTATTCGTGTGACCCTGGCGAGCGCCCCTGAGAACATATTATTAGTGTGATTATTTCCTTTGTGTATTTGTTACATCGTGTGC
GTGATTGCCTTTGTTTGTTAAGGGTGTCTGAGGAATATGGGGCTGACAGGGCACTGGAATGCTGGAAAGGACTTCTTCACTGAAATCACGGCTTCCTGGGAGGGACCACTGCAAAAAGGCCATCAGGC
AGTTTTCAAGTTATGTGACAGAGGGCAAAGATGGCCAGAGGGTGCTCTGAGTTTTGGGATGGTCACATGACACAATCCAGCACTTGAACCTGAAAAAAGAAAAATAAAAGCAGTCAAAGAGTTTAGAA

hide sequence


Protein RefSeqs	XP_005397567	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000016601
	ENSCLAP00000016601.1

RefSeq Acc Id:

XP_005397567 ⟸ XM_005397510

- UniProtKB:

A0A8C2VJT4 (UniProtKB/TrEMBL)

- Sequence:

show sequence

GGAGAGAGGERAGRPAPSAAPEPDGCPVCVWRQHSRELRLESIKSQILSKLRLKEAPNISREVVKQLLPKAPPLQQILDLHDFQGDALQPEDFLEEDEYHATTETVISMAQETDPAVQTDGSPLCCHF
HFSPKVMFTKVLKAQLWVYLRPVPRPATVYLQILRLKPLTGEGTAGGGGGGRRHIRIRSLKIELHSRSGHWQSIDFKQVLHSWFRQPQSNWGIEINAFDPSGTDLAVTSLGPGAEGLHPFMELRVLEN
TKRSRRNLGLDCDEHSSESRCCRYPLTVDFEAFGWDWIIAPKRYKANYCSGQCEYMFMQKYPHTHLVQQANPRGSAGPCCTPTKMSPINMLYFNDKQQIIYGKIPGMVVDRCGCS

hide sequence

Ensembl Acc Id:

ENSCLAP00000016601 ⟸ ENSCLAT00000016765

Protein Domains

TGF-beta family profile

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000011406	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000016765	ENTREZGENE
	ENSCLAT00000016765.1	UniProtKB/TrEMBL
Gene3D-CATH	2.10.90.10	UniProtKB/TrEMBL
	2.60.120.970	UniProtKB/TrEMBL
InterPro	Cystine-knot_cytokine	UniProtKB/TrEMBL
	TGF-b_C	UniProtKB/TrEMBL
	TGF-b_propeptide	UniProtKB/TrEMBL
	TGF-beta-rel	UniProtKB/TrEMBL
	TGFb_CS	UniProtKB/TrEMBL
NCBI Gene	Gdf11	ENTREZGENE
PANTHER	GROWTH/DIFFERENTIATION FACTOR 11	UniProtKB/TrEMBL
	PTHR11848	UniProtKB/TrEMBL
Pfam	TGF_beta	UniProtKB/TrEMBL
	TGFb_propeptide	UniProtKB/TrEMBL
PROSITE	TGF_BETA_1	UniProtKB/TrEMBL
	TGF_BETA_2	UniProtKB/TrEMBL
SMART	TGFB	UniProtKB/TrEMBL
Superfamily-SCOP	SSF57501	UniProtKB/TrEMBL
UniProt	A0A8C2VJT4	ENTREZGENE, UniProtKB/TrEMBL

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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