Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Gly12ValfsTer2 (p.G12Vfs*2)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Gly12ValfsTer2 (p.G12Vfs*2) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions
- ClinVar Allele ID
- 32043
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001004400
- ClinVar Disease
- Autosomal recessive nonsyndromic hearing loss 1B
- ClinVar Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Observed Origin Sample
- germline
Drugs