Annotation Detail
Information
- Associated Genes
- CYP11B1
- Associated Variants
-
CYP11B1 p.Arg448His (p.R448H)
(
ENST00000292427.10,
ENST00000377675.3,
ENST00000517471.5 )
CYP11B1 p.Arg448His (p.R448H) ( ENST00000292427.10, ENST00000377675.3, ENST00000517471.5 ) - Associated Disease
- Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- Absence of steroid biosynthetic defects in heterozygote individuals for classic 11 beta-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene.
- Pubmed
- 8530633
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.487871814290329
- Year of publication
- 1995
Drugs