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
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
- Pubmed
- 18973462
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.302953446367544
- Year of publication
- 2008
Drugs