Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Gln319Ter (p.Q319*)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Gln319Ter (p.Q319*) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- 21-hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- Earlier we had reported a large prevalence of the Q318X mutation in the CYP21A2 gene with 35.3% in Tunisian patients with a classical form of 21-hydroxylase deficiency, in contrast with 0.5% to 13.8% as described in other populations.
- Pubmed
- 21532487
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.155016001498359
- Year of publication
- 2011
Drugs