Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Val282Met (p.V282M)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Pro454Ser (p.P454S) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Met (p.V282M) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Pro454Ser (p.P454S) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
- Pubmed
- 20080860
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.302953446367544
- Year of publication
- 2010
Drugs