Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Met163Val (p.M163V)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Met163Val (p.M163V) ( ENST00000382844.2, ENST00000382848.5 ) - Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.487A>G (p.Met163Val) AND Hearing impairment
- ClinVar Allele ID
- 34240
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.487A>G
- Clinical Significance Description
- no classifications from unflagged records
- Clinical Significance Last Update
- 2023-10-18
- Clinical Significance Review Status
- no classifications from unflagged records
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001375209
- Observed Origin Sample
- germline
Drugs