Annotation Detail
Information
- Associated Genes
- CYP21A2 TNXB LOC106780800
- Associated Variants
-
CYP21A2 p.Gln319Ter (p.Q319*)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Gln319Ter (p.Q319*) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- CYP21A2-related disorder
- Source Database
- ClinVar
- Description
- NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) AND CYP21A2-related disorder
- ClinVar Allele ID
- 27208
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.865C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.550C>T
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.955C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.550C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-02-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003924828
- ClinVar Disease
- CYP21A2-related disorder
- Observed Origin Sample
- germline
Drugs