Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg216IlefsTer17 (p.R216Ifs*17)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Arg216IlefsTer17 (p.R216Ifs*17) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.647_650del (p.Arg216fs) AND Inborn genetic diseases
- ClinVar Allele ID
- 169009
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-08-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001266307
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs