Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg143Trp (p.R143W)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Val95Met (p.V95M) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Val84Met (p.V84M) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Arg143Trp (p.R143W) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val95Met (p.V95M) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Met (p.V84M) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Sensorineural Hearing Loss (disorder)
- Source Database
- DisGeNET
- Description
- Further studies are required to determine the exact mechanism by which mutant (V84L), (V95M), and (R143W) Cx26 proteins, which are capable of forming functional homotypic junctional channels in N2A cells, cause the cochlear dysfunction and sensorineural deafness.
- Pubmed
- 12562518
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.344722343815082
- Year of publication
- 2003
Drugs