Annotation Detail
Information
- Associated Genes
- AR
- Associated Variants
-
AR p.Glu654Lys (p.E654K)
(
ENST00000374690.9,
ENST00000396044.8 )
AR p.Glu654Lys (p.E654K) ( ENST00000374690.9, ENST00000396044.8 ) - Associated Disease
- Reifenstein Syndrome
- Source Database
- DisGeNET
- Description
- An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
- Pubmed
- 12050225
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.375472186708577
- Year of publication
- 2002
Drugs