Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800
- Associated Variants
-
CYP21A2 p.His63Leu (p.H63L)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.His63Leu (p.H63L) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 18381579
- Pubmed
- 18319307
- ClinVar Allele ID
- 27222
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.188A>T
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.188A>T
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.-147A>T
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.-237A>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-05-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012965
- ClinVar Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Drugs