chr13:20763497:C>T Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,497-20,763,497
hg38 chr13:20,189,358-20,189,358 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.224G>A NP_003995.2:p.Arg75Gln
Ensemble ENST00000382844.2:c.224G>A ENST00000382844.2:p.Arg75Gln
ENST00000382848.5:c.224G>A ENST00000382848.5:p.Arg75Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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 2005-08-30 no assertion criteria provided palmoplantar keratoderma-deafness syndrome germline Detail
Pathogenic 2005-08-30 no assertion criteria provided Autosomal dominant nonsyndromic hearing loss 3A germline Detail
Pathogenic 2016-04-01 no assertion criteria provided Autosomal recessive nonsyndromic hearing loss 1A inherited Detail
Pathogenic 2013-08-28 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2023-10-04 criteria provided, multiple submitters, no conflicts not provided 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
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
0.481 Palmoplantar Keratoderma with Deafness NA CLINVAR Detail
0.034 nonsyndromic deafness To the best of our knowledge, this is the first report from India on p.R75Q muta... BeFree 25393658 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss ... BeFree 12372058 Detail
0.034 nonsyndromic deafness Functional analysis of R75Q mutation in the gene coding for Connexin 26 identifi... BeFree 15996214 Detail
0.133 palmoplantar keratosis The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss ... BeFree 12372058 Detail
0.133 palmoplantar keratosis R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and... BeFree 24975403 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) AND Palmoplantar keratoderma-deafness syndrome ClinVar Detail
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) AND Autosomal dominant nonsyndromic hearing loss 3A ClinVar Detail
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) AND Hearing loss, autosomal recessive 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
NA DisGeNET Detail
To the best of our knowledge, this is the first report from India on p.R75Q mutation in the GJB2 gen... DisGeNET Detail
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar ker... DisGeNET Detail
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with ... DisGeNET Detail
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar ker... DisGeNET Detail
R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar kerato... 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
rs28931593 dbSNP
Genome
hg19
Position
chr13:20,763,497-20,763,497
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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