Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.His100ArgfsTer14 (p.H100Rfs*14)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.His100ArgfsTer14 (p.H100Rfs*14) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.299_300del (p.His100fs) AND not provided
- ClinVar Allele ID
- 53903
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.299_300del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-16
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000255698
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs