FSHR
Gene name: follicle stimulating hormone receptorOMIM ID: 136435
Chromosome location: 2p16.3
Mutations
| Disease/Phenotype | Ovarian hyperstimulation syndrome |
|---|---|
| Reference transcript | NM_000145.3 |
| DNA Change | c.1346C>T |
| A.A. Change | p.Thr449Ile |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Vasseur C, Rodien P, Beau I, Desroches A, Gerard C, de Poncheville L, Chaplot S, Savagner F, Croue A, Mathieu E, Lahlou N, Descamps P, Misrahi M.A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome. N Engl J Med. 2003 Aug 21;349(8):753-9. |