F10

coagulation factor X

Summary

This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]

Known Variants126 total

rsidPosition (GRCh37)AllelesClassClinVar
rs309326813:113,775,657G/A——
rs56306413:113,776,371A/C——
rs56396413:113,776,947C/T—benign
rs321171713:113,776,949C/A—benign
rs321299313:113,777,110G/A—uncertain significance
rs75754286713:113,777,160C/G—uncertain significance
rs14997257413:113,777,176C/T—uncertain significance
rs214224468113:113,777,197C/T—uncertain significance
rs250307190713:113,777,199C/T—likely benign
rs37563204113:113,777,201G/T—uncertain significance
rs37015498613:113,777,226G/A—conflicting classifications of pathogenicity
rs321171813:113,777,229C/T—conflicting classifications of pathogenicity
rs75379019513:113,777,230G/A—pathogenic
rs321171913:113,777,509A/Gregulatory region variantbenign
rs77243774713:113,779,448A/G——
rs321173013:113,781,607G/Cupstream gene variant—
rs37421082113:113,783,758C/T—likely benign
rs203640511713:113,783,772T/C—uncertain significance
rs126373582713:113,783,775G/A—uncertain significance
rs121201852513:113,783,779G/T—uncertain significance
rs214225207713:113,783,784A/G—uncertain significance
rs596113:113,783,785G/C—benign
rs203640587913:113,783,802C/A—uncertain significance
rs11511244813:113,783,806G/A—benign
rs250308141013:113,783,814G/C—likely pathogenic
rs12196494313:113,783,835A/Gmissense variantpathogenic
rs20173136013:113,783,837A/C—conflicting classifications of pathogenicity
rs76304130513:113,783,842G/A—likely benign
rs75178275813:113,783,847G/A—uncertain significance
rs12196493913:113,783,855G/Amissense variantpathogenic
rs12196494413:113,783,856A/Gmissense variantpathogenic
rs250308159513:113,783,862A/G—likely pathogenic
rs141457009513:113,783,869G/A—uncertain significance
rs132513501913:113,783,900G/A—likely pathogenic
rs77321468013:113,783,907T/C—likely pathogenic
rs12196494513:113,783,909G/Cmissense variantpathogenic
rs20193201413:113,783,926G/C—uncertain significance
rs321173613:113,783,990T/C—benign
rs321173713:113,784,015G/A—benign
rs48579813:113,784,221T/G—benign
rs69333513:113,784,443G/A——
rs7939556013:113,786,700G/Adownstream gene variant—
rs57789896013:113,787,573T/C——
rs225110213:113,792,754T/C—benign
rs159509291613:113,792,780T/G—uncertain significance
rs250309434313:113,792,795G/A—likely pathogenic
rs202616013:113,792,893C/A—benign
rs37269187313:113,793,659C/T—uncertain significance
rs76564968213:113,793,670G/C—likely pathogenic
rs76336583113:113,793,675C/T—uncertain significance
rs250309554913:113,793,684T/A—likely pathogenic
rs133582694213:113,793,693T/A—uncertain significance
rs56790927713:113,793,732G/C—uncertain significance
rs250309567813:113,793,737A/T—uncertain significance
rs250309569113:113,793,742T/C—uncertain significance
rs74703051113:113,793,762C/T—uncertain significance
rs321177013:113,793,849G/Aintron variantbenign
rs11173718413:113,795,258C/T—likely benign
rs596213:113,795,261C/Tsynonymous variantlikely benign
rs36822567113:113,795,262G/A—conflicting classifications of pathogenicity
rs6175326613:113,795,286G/Amissense variantpathogenic
rs14928582713:113,795,322G/A—uncertain significance
rs321177313:113,795,652A/G—benign
rs77689713:113,795,671T/C—benign
rs127729588213:113,798,197C/T—uncertain significance
rs19950407013:113,798,200A/G—uncertain significance
rs321178313:113,798,236G/A—benign
rs88605000213:113,798,246C/G—uncertain significance
rs14085297813:113,798,295C/G—uncertain significance
rs14471155013:113,798,308G/A—uncertain significance
rs159509626613:113,798,364G/C—uncertain significance
rs20061818213:113,798,417T/C—likely benign
rs37672858713:113,798,420G/A—uncertain significance
rs13935966613:113,801,694C/T—uncertain significance
rs77936484513:113,801,722T/C—likely benign
rs596013:113,801,737T/C—benign
rs203659255013:113,801,760T/C—likely pathogenic
rs213855425213:113,801,774T/A—uncertain significance
rs125050912213:113,801,782C/A—pathogenic
rs12196494813:113,801,804A/Tmissense variantpathogenic
rs12196494613:113,801,810G/Cmissense variantpathogenic
rs203118413:113,801,843A/G—benign
rs321180013:113,801,900G/C—benign
rs14921270013:113,803,236G/A—uncertain significance
rs75241297113:113,803,242C/T—uncertain significance
rs14528235313:113,803,266C/T—uncertain significance
rs76897888613:113,803,276G/C—uncertain significance
rs136635434913:113,803,280G/A—uncertain significance
rs14467967413:113,803,311A/G—conflicting classifications of pathogenicity
rs12196494213:113,803,328G/Amissense variantpathogenic
rs213855720613:113,803,356C/T—uncertain significance
rs12196494713:113,803,376G/Amissense variantpathogenic
rs4128661013:113,803,396C/T—conflicting classifications of pathogenicity
rs75511038313:113,803,400C/T—likely pathogenic
rs76822278413:113,803,437C/T—likely pathogenic
rs159509952713:113,803,451G/A—likely pathogenic
rs156692269613:113,803,457G/A—uncertain significance
rs250311269113:113,803,458G/C—uncertain significance
rs10489439213:113,803,460C/Tmissense variantpathogenic
rs14371567313:113,803,461G/A—uncertain significance

Showing 100 of 126 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.