Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800
- Associated Variants
-
CYP21A2 p.Gly292Arg (p.G292R)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Gly292Arg (p.G292R) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.874G>C (p.Gly292Arg) AND not provided
- ClinVar Allele ID
- 1488579
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.874G>C
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.784G>C
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.469G>C
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.469G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001999400
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs