chr13:20189359: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	chr13:20,763,498-20,763,498 View the variant detail on this assembly version.
hg38	chr13:20,189,359-20,189,359

HGVS

GJB2

Type	Transcript	Protein
RefSeq	NM_004004.5:c.223C>T	NP_003995.2:p.Arg75Trp
Ensemble	ENST00000382844.2:c.223C>T	ENST00000382844.2:p.Arg75Trp
	ENST00000382848.5:c.223C>T	ENST00000382848.5:p.Arg75Trp

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-05-01	no assertion criteria provided	Autosomal dominant nonsyndromic hearing loss 3A	germline	Detail
Pathogenic	2014-09-29	criteria provided, single submitter	Rare genetic deafness	germline	Detail
Pathogenic	2020-08-21	criteria provided, single submitter	Hereditary palmoplantar keratoderma,Nonsyndromic genetic hearing loss	germline	Detail
Pathogenic	2020-08-21	criteria provided, single submitter	Hereditary palmoplantar keratoderma,Nonsyndromic genetic hearing loss	germline	Detail
Likely pathogenic		no assertion criteria provided	Hearing loss, autosomal recessive	inherited	Detail
Pathogenic	2020-04-22	criteria provided, single submitter	palmoplantar keratoderma-deafness syndrome	de novo	Detail
Pathogenic	2022-07-18	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
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	Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrom...	BeFree	20583176	Detail
0.133	palmoplantar keratosis	Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrom...	BeFree	20583176	Detail
0.012	Dermatologic disorders	Here we compare the properties of four cx26 mutants derived from point mutations...	BeFree	12668604	Detail
0.065	Hearing Loss, Mixed Conductive-Sensorineural	In a mouse model, this siRNA duplex selectively suppressed GJB2(R75W) expression...	BeFree	15857852	Detail

Annotation

Annotations

Descrption	Source	Links
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) AND Autosomal dominant nonsyndromic hearing loss 3A	ClinVar	Detail
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) AND Rare genetic deafness	ClinVar	Detail
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) AND multiple conditions	ClinVar	Detail
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) AND multiple conditions	ClinVar	Detail
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) AND Hearing loss, autosomal recessive	ClinVar	Detail
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) AND Palmoplantar keratoderma-deafness syndrome	ClinVar	Detail
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) AND not provided	ClinVar	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
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in cl...	DisGeNET	Detail
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in cl...	DisGeNET	Detail
Here we compare the properties of four cx26 mutants derived from point mutations associated with dom...	DisGeNET	Detail
In a mouse model, this siRNA duplex selectively suppressed GJB2(R75W) expression by >70% of contr...	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: rs104894402 dbSNP
Genome: hg38
Position: chr13:20,189,359-20,189,359
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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