Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Glu47Ter (p.E47*)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Glu47Ter (p.E47*) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Pendred's syndrome
- Source Database
- DisGeNET
- Description
- Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.
- Pubmed
- 22429511
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2012
Drugs