Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Trp77Arg (p.W77R)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Trp77Arg (p.W77R) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
- Source Database
- DisGeNET
- Description
- The Cx26 mutant W77R, which has been implicated in autosomal recessive deafness, also failed to form functional gap channels by itself but did not significantly interfere with the function of wildtype Cx26.
- Pubmed
- 9856479
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00461451182536516
- Year of publication
- 1998
Drugs