Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Leu79CysfsTer3 (p.L79Cfs*3)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Leu79CysfsTer3 (p.L79Cfs*3) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- The c.235delC of GJB2 gene is the hotspot mutation of the hearing loss population in the Silk Road region of China.
- Pubmed
- 24256046
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2014
Drugs