Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Met34Arg (p.M34R)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Met34Thr (p.M34T) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly12Val (p.G12V) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Met34Arg (p.M34R) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Met34Thr (p.M34T) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Val (p.G12V) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- The most common GJB2 gene mutations in Estonian children with early onset hearing loss were c.35delG and p.M34T, with c.35delG accounting for 75% of GJB2 alleles.
- Pubmed
- 20708129
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2010
Drugs