Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Gly292Ser (p.G292S)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Gly292Arg (p.G292R) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Arg484Gln (p.R484Q) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Arg484Pro (p.R484P) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Gly292Ser (p.G292S) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Gly292Arg (p.G292R) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Arg484Gln (p.R484Q) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Arg484Pro (p.R484P) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- congenital adrenal hyperplasia
- Source Database
- DisGeNET
- Description
- Three mutants (deletion of E196, G291S, and R483P) of steroid 21-hydroxylase (P450c21) from patients with inherited congenital adrenal hyperplasia had reduced activity toward progesterone and 17-hydroxyprogesterone after transient expression in cultured mammalian cells.
- Pubmed
- 9497336
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.29375669260601
- Year of publication
- 1998
Drugs