Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg184Pro (p.R184P)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Arg184Gln (p.R184Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Pro (p.R184P) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Gln (p.R184Q) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30.
- Pubmed
- 20442751
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2010
Drugs