Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg75Gln (p.R75Q)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.His73Arg (p.H73R) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly59Ala (p.G59A) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly59Asp (p.G59D) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg75Gln (p.R75Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.His73Arg (p.H73R) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly59Ala (p.G59A) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly59Asp (p.G59D) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Palmoplantar Keratoderma with Deafness
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.480542883744161
- Year of publication
- NA
Drugs