FGF8

fibroblast growth factor 8

Summary

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]

Known Variants82 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13949906410:103,529,809A/T—likely benign
rs321823910:103,529,962C/G—likely benign
rs75158796310:103,530,110C/T—likely benign
rs75607887910:103,530,123C/T—uncertain significance
rs78033535010:103,530,124G/A—uncertain significance
rs13785266410:103,530,135G/Amissense variantpathogenic
rs137088614510:103,530,160C/T—uncertain significance
rs13868288210:103,530,166G/A—uncertain significance
rs11636356410:103,530,179G/A—likely benign
rs87666133110:103,530,204C/Tmissense variantpathogenic
rs14734289010:103,530,239C/T—likely benign
rs77408022510:103,530,262G/A—uncertain significance
rs36996726210:103,530,271G/A—uncertain significance
rs20197935310:103,530,295C/T—uncertain significance
rs253973760910:103,530,298A/G—uncertain significance
rs37153410410:103,530,313G/A—uncertain significance
rs37584995210:103,530,314C/T—likely benign
rs158980973910:103,530,315G/A—likely benign
rs253973768310:103,530,319T/A—uncertain significance
rs77808228710:103,530,324T/C—uncertain significance
rs13956597210:103,530,352C/A—likely pathogenic
rs60623140710:103,530,370C/Tmissense variantuncertain significance
rs321823810:103,530,438C/T—benign
rs321823610:103,531,082G/A—likely benign
rs321823410:103,531,201T/C—benign
rs149060408010:103,531,219C/T—likely pathogenic
rs206502480110:103,531,227A/C—uncertain significance
rs20179306910:103,531,241C/T—benign
rs37532121110:103,531,262G/A—likely benign
rs6173033410:103,531,266G/A—conflicting classifications of pathogenicity
rs74561390810:103,531,271G/A—likely benign
rs76975652810:103,531,278C/G—conflicting classifications of pathogenicity
rs87666133010:103,531,279G/Astop gainedpathogenic
rs13785266310:103,531,285G/Astop gainedpathogenic
rs117054734910:103,531,307C/T—likely benign
rs87666132910:103,531,308G/Amissense variantpathogenic
rs56910211610:103,534,473C/T—likely benign
rs87666132810:103,534,509G/Tmissense variantpathogenic
rs128827839910:103,534,526C/G—uncertain significance
rs13785266210:103,534,528T/Cmissense variantpathogenic
rs53768130410:103,534,536A/G—likely pathogenic
rs105752467610:103,534,539A/Tmissense variantpathogenic
rs213499946310:103,534,545A/G—uncertain significance
rs253936673910:103,534,548T/C—uncertain significance
rs155483487610:103,534,565G/C—uncertain significance
rs60623140810:103,534,589G/Csynonymous variantpathogenic
rs253936697610:103,534,594G/A—uncertain significance
rs56081267610:103,534,610C/T—likely benign
rs253936713010:103,534,631C/G—uncertain significance
rs155483488910:103,534,669C/G—likely pathogenic
rs155483489210:103,534,670C/T—likely pathogenic
rs206506914610:103,534,675G/C—uncertain significance
rs213499981510:103,534,683A/G—uncertain significance
rs75758484210:103,534,881A/G—likely benign
rs103235025310:103,534,884C/T—uncertain significance
rs213500051310:103,534,906G/A—uncertain significance
rs78120587610:103,534,913G/A—conflicting classifications of pathogenicity
rs74625904810:103,534,917A/G—likely benign
rs13785266110:103,534,925A/Gmissense variantpathogenic
rs77161887210:103,534,945C/A—uncertain significance
rs77272982110:103,534,950C/T—likely benign
rs54449456210:103,534,951G/T—uncertain significance
rs19985872410:103,534,959C/A—likely benign
rs206507323210:103,534,964C/G—uncertain significance
rs13785266010:103,534,966G/Amissense variantpathogenic
rs101245698010:103,534,971T/C—likely benign
rs128362930410:103,534,983C/T—likely benign
rs144147611510:103,535,486C/T—likely benign
rs253937046110:103,535,501G/C—uncertain significance
rs92181408210:103,535,507A/T—uncertain significance
rs13785265910:103,535,526G/Tmissense variantpathogenic
rs128816588810:103,535,536G/A—uncertain significance
rs74960588510:103,535,538G/A—likely benign
rs76944206210:103,535,614C/A—likely benign
rs53535128110:103,535,615G/A—likely benign
rs134350479010:103,535,617G/T—likely benign
rs132221199510:103,535,634C/A—likely benign
rs140751075410:103,535,638G/C—uncertain significance
rs206508393010:103,535,640G/T—likely benign
rs206508483810:103,535,662C/T—likely benign
rs253937150610:103,535,665G/C—likely benign
rs75618792510:103,535,692G/A—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.