Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Leu56ArgfsTer26 (p.L56Rfs*26)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Leu56ArgfsTer26 (p.L56Rfs*26) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- GJB2-related disorder
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.167del (p.Leu56fs) AND GJB2-related disorder
- ClinVar Allele ID
- 32049
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.167del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-05-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000346888
- ClinVar Disease
- GJB2-related disorder
- Observed Origin Sample
- germline
Drugs