Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Gly12Val (p.G12V)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382848.5, ENST00000382844.2 )
NC_000013.11:g.20193170A>G
GJB2 p.Gly12Val (p.G12V) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382844.2, ENST00000382848.5 )
NC_000013.11:g.20193170A>G - Associated Disease
- nonsyndromic deafness
- Source Database
- DisGeNET
- Description
- In a NSHI family, inheritance of the rs117685390 C allele segregated on independent chromosomes with NSHI in conjunction with heterozygous inheritance of c.35delG, the most common Caucasian mutation in the GJB2 coding region.
- Pubmed
- 23640091
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0343212280139571
- Year of publication
- 2013
Drugs