Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800
- Associated Variants
-
CYP21A2 p.Arg484ProfsTer58 (p.R484Pfs*58)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Arg484ProfsTer58 (p.R484Pfs*58) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Observed Origin Sample
- germline
- Pubmed
- 1496017
- ClinVar Allele ID
- 27196
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.1451_1452delinsC
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.1046_1047delinsC
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.1046_1047delinsC
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.1361_1362delinsC
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-03-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012941
- ClinVar Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Drugs