Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Met34Arg (p.M34R)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Met34Thr (p.M34T) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Met34Arg (p.M34R) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Met34Thr (p.M34T) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- These data support the hypothesis of a functional role for M34T as a dominant allele and represent a further step towards a complete understanding of the role of GJB2 in causing hearing loss.
- Pubmed
- 12176036
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2002
Drugs