Annotation Detail
Information
- Associated Genes
- CYP21A2 LOC106780800 LOC110631417
- Associated Variants
-
CYP21A2 c.-4C>T
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Pro106Leu (p.P106L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Pro454Ser (p.P454S) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 c.-4C>T ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Pro106Leu (p.P106L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Pro454Ser (p.P454S) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Source Database
- ClinVar
- Description
- NM_000500.9(CYP21A2):c.[-4C>T;1360C>T317C>T] AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- ClinVar Allele ID
- 27197
- ClinVar Allele ID
- 27198
- ClinVar Allele ID
- 252220
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.227C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.-338C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.-428C>T
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.317C>T
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.-4C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.955C>T
- ClinVar RefSeq Alternation Syntax
- NM_001128590.4:c.1270C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.955C>T
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.-4C>T
- ClinVar RefSeq Alternation Syntax
- NM_000500.9:c.1360C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368143.2:c.-89C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368144.2:c.-89C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1997-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012942
- ClinVar Disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Observed Origin Sample
- germline
- Pubmed
- 8989258
- Pubmed
- 1406699
- Pubmed
- 8081391
- Pubmed
- 1496017
Drugs