chr13:20189488:G>A Detail (hg38) (GJB2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr13:20,763,627-20,763,627 View the variant detail on this assembly version.
hg38	chr13:20,189,488-20,189,488

HGVS

GJB2

Type	Transcript	Protein
RefSeq	NM_004004.5:c.94C>T	NP_003995.2:p.Arg32Cys
Ensemble	ENST00000382844.2:c.94C>T	ENST00000382844.2:p.Arg32Cys
	ENST00000382848.5:c.94C>T	ENST00000382848.5:p.Arg32Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

GJB2

Type	Database	ID	Link
Gene	MIM	121011	OMIM
	HGNC	4284	HGNC
	Ensembl	ENSG00000165474	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1289881	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-11-18	criteria provided, multiple submitters, no conflicts	Autosomal recessive nonsyndromic hearing loss 1A	germline unknown	Detail
Pathogenic	2024-03-29	criteria provided, single submitter	Rare genetic deafness	germline	Detail
Pathogenic	2023-12-21	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2018-09-28	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	NA	CLINVAR		Detail
0.065	Hearing Loss, Mixed Conductive-Sensorineural	Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants ...	BeFree	11102979	Detail

Annotation

Annotations

Descrption	Source	Links
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) AND Autosomal recessive nonsyndromic hearing loss 1A	ClinVar	Detail
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) AND Rare genetic deafness	ClinVar	Detail
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) AND not provided	ClinVar	Detail
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) AND not specified	ClinVar	Detail
NA	DisGeNET	Detail
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafne...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs371024165 dbSNP
Genome: hg38
Position: chr13:20,189,488-20,189,488
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121364
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.1198378431824927E-5

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