Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Cys202Phe (p.C202F)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Arg184Pro (p.R184P) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Gln (p.R184Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp179Tyr (p.D179Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp179Asn (p.D179N) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Arg143Gln (p.R143Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg75Gln (p.R75Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg75Trp (p.R75W) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly59Ala (p.G59A) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly59Asp (p.G59D) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Cys (p.W44C) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Trp44Ser (p.W44S) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Cys202Phe (p.C202F) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Pro (p.R184P) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Gln (p.R184Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp179Tyr (p.D179Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp179Asn (p.D179N) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg143Gln (p.R143Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg75Gln (p.R75Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg75Trp (p.R75W) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly59Ala (p.G59A) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly59Asp (p.G59D) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Cys (p.W44C) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ser (p.W44S) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- palmoplantar keratosis
- Source Database
- DisGeNET
- Description
- HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W).
- Pubmed
- 21040787
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.132701686160982
- Year of publication
- 2011
Drugs