Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg75Trp (p.R75W)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Asp66His (p.D66H) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly59Ala (p.G59A) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly59Asp (p.G59D) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ser (p.W44S) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg75Trp (p.R75W) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp66His (p.D66H) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly59Ala (p.G59A) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly59Asp (p.G59D) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ser (p.W44S) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Dermatologic disorders
- Source Database
- DisGeNET
- Description
- Here we compare the properties of four cx26 mutants derived from point mutations associated with dominantly inherited hearing loss, either non-syndromic (W44S, R75W) or with various skin disorders (G59A, D66H, R75W).
- Pubmed
- 12668604
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0116918635427813
- Year of publication
- 2003
Drugs