chr13:20189031:C>T 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	chr13:20,763,170-20,763,170 View the variant detail on this assembly version.
hg38	chr13:20,189,031-20,189,031

HGVS

GJB2

Type	Transcript	Protein
RefSeq	NM_004004.5:c.551G>A	NP_003995.2:p.Arg184Gln
Ensemble	ENST00000382844.2:c.551G>A	ENST00000382844.2:p.Arg184Gln
	ENST00000382848.5:c.551G>A	ENST00000382848.5:p.Arg184Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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 Likely pathogenic	2018-12-07	criteria provided, multiple submitters, no conflicts	Autosomal dominant nonsyndromic hearing loss 3A	germline unknown	Detail
Pathogenic	2013-02-08	criteria provided, single submitter		germline	Detail
Pathogenic	2023-09-07	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2014-04-07	no assertion criteria provided		germline	Detail
Pathogenic	2018-11-28	criteria provided, single submitter	Rare genetic deafness	germline	Detail
Pathogenic	2019-05-28	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2022-08-24	criteria provided, single submitter	Nonsyndromic genetic hearing loss	germline	Detail
Pathogenic	2023-06-02	criteria provided, single submitter	Autosomal recessive nonsyndromic hearing loss 1A	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	NA	CLINVAR		Detail
0.360	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)	NA	CLINVAR		Detail
0.133	palmoplantar keratosis	HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non...	BeFree	20096356	Detail
<0.001	palmoplantar keratosis	HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non...	BeFree	20096356	Detail
0.133	palmoplantar keratosis	HeLa cells stably expressing wild type Cx26 were transiently transfected to co-e...	BeFree	21040787	Detail
0.065	Hearing Loss, Mixed Conductive-Sensorineural	Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative e...	BeFree	20442751	Detail

Annotation

Annotations

Descrption	Source	Links
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) AND Autosomal dominant nonsyndromic hearing loss 3A	ClinVar	Detail
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) AND Hearing impairment	ClinVar	Detail
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) AND not provided	ClinVar	Detail
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) AND Hearing loss	ClinVar	Detail
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) AND Rare genetic deafness	ClinVar	Detail
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) AND not specified	ClinVar	Detail
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) AND Nonsyndromic genetic hearing loss	ClinVar	Detail
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) AND Autosomal recessive nonsyndromic hearing loss 1A	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing l...	DisGeNET	Detail
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing l...	DisGeNET	Detail
HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individu...	DisGeNET	Detail
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26...	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: rs80338950 dbSNP
Genome: hg38
Position: chr13:20,189,031-20,189,031
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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