chr13:20763423:G>A Detail (hg19) (GJB2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr13:20,763,423-20,763,423
hg38	chr13:20,189,284-20,189,284 View the variant detail on this assembly version.

HGVS

GJB2

Type	Transcript	Protein
RefSeq	NM_004004.5:c.298C>T	NP_003995.2:p.His100Tyr
Ensemble	ENST00000382848.5:c.298C>T	ENST00000382848.5:p.His100Tyr
	ENST00000382844.2:c.298C>T	ENST00000382844.2:p.His100Tyr

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 Likely 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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-02-08	criteria provided, single submitter		germline	Detail
Pathogenic Likely pathogenic	2023-06-02	criteria provided, multiple submitters, no conflicts	Autosomal recessive nonsyndromic hearing loss 1A	germline unknown	Detail
Pathogenic	2016-03-22	criteria provided, single submitter	Rare genetic deafness	germline	Detail
Pathogenic	2003-02-14	no assertion criteria provided		germline	Detail
Pathogenic	2024-01-05	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2020-08-15	no assertion criteria provided		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) AND Hearing impairment	ClinVar	Detail
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) AND Autosomal recessive nonsyndromic hearing loss 1A	ClinVar	Detail
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) AND Rare genetic deafness	ClinVar	Detail
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) AND Hearing loss	ClinVar	Detail
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) AND not provided	ClinVar	Detail
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) AND nonsyndromic sensorineural hearing loss	ClinVar	Detail
NA	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: rs143343083 dbSNP
Genome: hg19
Position: chr13:20,763,423-20,763,423
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8638
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): 121260
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): 4.123371268349002E-5

Genome browser