Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Val37Ile (p.V37I)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Val37Ile (p.V37I) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND Inborn genetic diseases
- ClinVar Allele ID
- 32062
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.109G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-02-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002514109
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs