Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Ile173Asn (p.I173N)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Ile173Asn (p.I173N) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- congenital adrenal hyperplasia
- Source Database
- DisGeNET
- Description
- Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia.
- Pubmed
- 1937474
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.29375669260601
- Year of publication
- 1991
Drugs