Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Val84Met (p.V84M)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Val84Met (p.V84M) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.250G>A (p.Val84Met) AND Autosomal recessive nonsyndromic hearing loss 1A
- ClinVar Allele ID
- 32075
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.250G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-06-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018564
- ClinVar Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 17660464
Drugs