Annotation Detail
Information
- Associated Genes
- CYP11B1
- Associated Variants
-
CYP11B1 p.Leu299Pro (p.L299P)
(
ENST00000292427.10,
ENST00000377675.3,
ENST00000517471.5 )
CYP11B1 p.Leu299Gln (p.L299Q) ( ENST00000292427.10, ENST00000377675.3, ENST00000517471.5 )
CYP11B1 p.Leu299Pro (p.L299P) ( ENST00000292427.10, ENST00000377675.3, ENST00000517471.5 )
CYP11B1 p.Leu299Gln (p.L299Q) ( ENST00000292427.10, ENST00000377675.3, ENST00000517471.5 ) - Associated Disease
- 11-Beta-hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency.
- Pubmed
- 18663314
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00760037241824849
- Year of publication
- 2008
Drugs