Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Trp44Ter (p.W44*)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) AND Inborn genetic diseases
- ClinVar Allele ID
- 186861
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.131G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-11-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000624765
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs