Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800
- Associated Variants
-
CYP21A2 p.Arg484Pro (p.R484P)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Arg484Pro (p.R484P) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- ClinVar Allele ID
- 1254236
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.1046G>C
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.1451G>C
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.1361G>C
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.1046G>C
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2022-05-22
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001667859
- ClinVar Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Observed Origin Sample
- germline
Drugs