Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.His63Leu (p.H63L)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.His63Leu (p.H63L) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
- Pubmed
- 18319307
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.302953446367544
- Year of publication
- 2008
Drugs