Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Gly35Glu (p.G35E)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Gly35Glu (p.G35E) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Arg255Leu (p.R255L) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Arg92Gln (p.R92Q) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Arg255Leu (p.R255L) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Arg92Gln (p.R92Q) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- gonadal dysgenesis
- Source Database
- DisGeNET
- Description
- Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency.
- Pubmed
- 15472171
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0054387689632702
- Year of publication
- 2004
Drugs