Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Glu47Ter (p.E47*)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Glu47Ter (p.E47*) ( ENST00000382844.2, ENST00000382848.5 ) - Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND Hearing impairment
- ClinVar Allele ID
- 32044
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.139G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-04-12
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000146008
- Observed Origin Sample
- germline
Drugs