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
- Familial Testotoxicosis
- Source Database
- DisGeNET
- Description
- We found the typical plasma steroid pattern of 11 beta-hydroxylase deficiency and identified the R448H mutation in the CYP11B1 gene in a boy presenting with pseudoprecocious puberty at age 2 yr.
- Pubmed
- 9329393
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 1997
Drugs