Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Val238Glu (p.V238E)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Met240Lys (p.M240K) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val238Glu (p.V238E) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Met240Lys (p.M240K) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- Detection and assignment of CYP21 mutations using peptide mass signature genotyping.
- Pubmed
- 15110320
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.302953446367544
- Year of publication
- 2004
Drugs