Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800
- Associated Variants
-
CYP21A2 p.Lys121Gln (p.K121Q)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Lys121Gln (p.K121Q) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- ClinVar Allele ID
- 33491
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.-45A>C
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.-45A>C
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.361A>C
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.271A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012966
- ClinVar Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Observed Origin Sample
- germline
- Pubmed
- 18445671
Drugs