Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Gly12ValfsTer2 (p.G12Vfs*2)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Gly12ValfsTer2 (p.G12Vfs*2) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs