Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Tyr136Ter (p.Y136*)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Gly45Glu (p.G45E) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Tyr136Ter (p.Y136*) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly45Glu (p.G45E) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Source Database
- ClinVar
- Description
- NM_004004.5(GJB2):c.[134G>A;408C>A] AND Autosomal recessive nonsyndromic hearing loss 1A
- ClinVar Allele ID
- 186856
- ClinVar Allele ID
- 32072
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.134G>A
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.408C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-05-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000258130
- ClinVar Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Observed Origin Sample
- germline
- Pubmed
- 24785414
- Pubmed
- 20497192
- Pubmed
- 15633193
- Pubmed
- 12560944
Drugs