Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Trp24Ter (p.W24*)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Gly12Val (p.G12V) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Trp24Ter (p.W24*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Val (p.G12V) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- nonsyndromic deafness
- Source Database
- DisGeNET
- Description
- Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania.
- Pubmed
- 20096468
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0343212280139571
- Year of publication
- 2010
Drugs