Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800
- Associated Variants
-
CYP21A2 p.Gly292Ser (p.G292S)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Gly292Ser (p.G292S) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- ClinVar Allele ID
- 27195
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.469G>A
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.874G>A
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.784G>A
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.469G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012940
- ClinVar Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Observed Origin Sample
- germline
- Pubmed
- 1496017
Drugs