Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Gly12Asp (p.G12D)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) AND not specified
- ClinVar Allele ID
- 547105
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.35G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-12-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001805787
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs