Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Ser19Ile (p.S19I)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Ser19Ile (p.S19I) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.56G>T (p.Ser19Ile) AND not provided
- ClinVar Allele ID
- 1983023
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.56G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-09-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002634742
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs