Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Lys121Gln (p.K121Q)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Lys121Gln (p.K121Q) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- Our objective was to study the functional and structural consequences of the novel CYP21A2 missense mutation c.364A > C (K121Q) detected in a female patient with nonclassical 21-hydroxylase deficiency.
- Pubmed
- 18445671
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.302953446367544
- Year of publication
- 2008
Drugs