FSHB

follicle stimulating hormone subunit beta

Summary

The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Known Variants45 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1083563811:30,252,352G/Tupstream gene variantassociation
rs75581123011:30,252,567C/G—uncertain significance
rs88604817811:30,252,597T/C—uncertain significance
rs55031211:30,253,189T/G—benign
rs61124611:30,253,318A/T—benign
rs77033065911:30,253,455G/A—likely benign
rs76330076211:30,253,479C/G—uncertain significance
rs617011:30,253,508G/T—conflicting classifications of pathogenicity
rs74655305311:30,253,532T/C—uncertain significance
rs13807239911:30,253,556G/A—uncertain significance
rs118396043011:30,253,557T/C—likely benign
rs14954140911:30,253,580C/G—likely benign
rs115709689311:30,253,596C/T—likely benign
rs60989611:30,253,641T/C—benign
rs147892005611:30,255,141A/T—uncertain significance
rs503077611:30,255,162T/Gmissense variantpathogenic
rs616911:30,255,185C/T—benign
rs249457902011:30,255,194G/A—likely benign
rs104457200311:30,255,202C/T—uncertain significance
rs12190966611:30,255,239C/Astop gainedpathogenic
rs249457937411:30,255,244T/C—uncertain significance
rs503077711:30,255,255T/Cmissense variantpathogenic
rs3436596411:30,255,269G/A—conflicting classifications of pathogenicity
rs26760284111:30,255,279G/A—uncertain significance
rs96864438511:30,255,283G/C—uncertain significance
rs14845479211:30,255,284C/A—uncertain significance
rs77933772811:30,255,290T/C—likely benign
rs14238740611:30,255,299G/A—benign
rs37462310911:30,255,300C/T—likely pathogenic
rs15130357311:30,255,301G/A—uncertain significance
rs87955305511:30,255,559T/C—uncertain significance
rs55509484111:30,255,650C/A—uncertain significance
rs50619711:30,255,823A/G—benign
rs50630611:30,255,867C/G—benign
rs88604817911:30,255,898G/A—uncertain significance
rs185205424711:30,255,957C/T—uncertain significance
rs67634911:30,255,982A/G—benign
rs77962219011:30,256,010G/C—uncertain significance
rs96908315211:30,256,188C/A—uncertain significance
rs55257033011:30,256,219C/T—uncertain significance
rs14313778211:30,256,245T/C—uncertain significance
rs7894648311:30,256,295T/G—likely benign
rs7546489511:30,256,356A/G—uncertain significance
rs54043248211:30,256,684G/A—uncertain significance
rs185206651811:30,256,777T/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.