Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Asp179Tyr (p.D179Y)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Asp179Asn (p.D179N) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly12Val (p.G12V) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Asp179Tyr (p.D179Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp179Asn (p.D179N) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Val (p.G12V) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Sensorineural Hearing Loss (disorder)
- Source Database
- DisGeNET
- Description
- The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G>C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179.
- Pubmed
- 23812555
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.344722343815082
- Year of publication
- 2013
Drugs