Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800
- Associated Variants
-
CYP21A2 c.293-13C>G
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 c.293-13C>G ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.293-13C>G AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- ClinVar Allele ID
- 27194
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.-126C>G
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.293-13C>G
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.203-13C>G
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.-126C>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-04-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012939
- ClinVar Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Observed Origin Sample
- paternal
- Observed Origin Sample
- unknown
- Observed Origin Sample
- maternal
- Pubmed
- 12788880
- Pubmed
- 7096533
- Pubmed
- 2325662
- Pubmed
- 2845408
- Pubmed
- 8081391
- Pubmed
- 1644925
- Pubmed
- 8968761
- Pubmed
- 5804199
- Pubmed
- 12915679
- Pubmed
- 1985465
- Pubmed
- 7635470
Drugs