F7

coagulation factor VII

Summary

This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. 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 Variants221 total

rsidPosition (GRCh37)AllelesClassClinVar
rs51031713:113,759,754A/T——
rs56124113:113,760,034T/Cregulatory region variantbenign
rs250299225013:113,760,060C/A—uncertain significance
rs126342614413:113,760,062C/G—pathogenic
rs136711584813:113,760,095T/G—likely pathogenic
rs141801238913:113,760,101C/T—pathogenic
rs36773297413:113,760,102G/Aregulatory region variant—
rs54959199313:113,760,108C/Aregulatory region variantuncertain significance
rs57739366613:113,760,112T/C—likely benign
rs76121278713:113,760,124A/Cregulatory region variant—
rs53957893113:113,760,126A/C—likely pathogenic
rs88604998513:113,760,129C/T—uncertain significance
rs76629499713:113,760,157T/C—pathogenic
rs38790650713:113,760,193T/Cmissense variantpathogenic
rs18712879113:113,760,223C/T—likely benign
rs76945516113:113,760,224G/A—likely pathogenic
rs1048284413:113,760,227C/T—likely benign
rs603913:113,760,228G/A—benign
rs277403013:113,760,415G/A—benign
rs18457369813:113,761,156C/T—conflicting classifications of pathogenicity
rs18940961013:113,761,160C/T—benign
rs77384215413:113,761,164G/T—uncertain significance
rs37182498013:113,761,179G/A—uncertain significance
rs309323813:113,761,202G/A—likely benign
rs36827242013:113,761,224G/A—likely pathogenic
rs88604998613:113,761,235A/T—uncertain significance
rs2866335713:113,761,513C/T—benign
rs55179340613:113,763,846C/T——
rs13901588213:113,765,018G/A—uncertain significance
rs214221224013:113,765,023A/C—likely benign
rs203607436013:113,765,025C/A—conflicting classifications of pathogenicity
rs37697192713:113,765,027C/T—uncertain significance
rs76315684213:113,765,032C/T—likely benign
rs88604998713:113,765,042C/A—uncertain significance
rs76661059213:113,765,049G/A—uncertain significance
rs37337656513:113,765,081C/T—uncertain significance
rs37638466513:113,765,084G/C—likely pathogenic
rs54685664113:113,765,088C/G—conflicting classifications of pathogenicity
rs4557293913:113,765,091T/A—conflicting classifications of pathogenicity
rs250302180513:113,765,108G/C—uncertain significance
rs141435351413:113,765,114C/T—likely pathogenic
rs74537444813:113,765,117T/C—pathogenic
rs144829656413:113,765,118G/T—likely pathogenic
rs203607730113:113,765,124T/C—uncertain significance
rs12196493513:113,765,126G/Cmissense variantuncertain significance
rs147329986013:113,765,130A/T—uncertain significance
rs203607789313:113,765,134C/G—likely benign
rs77635414413:113,765,135C/G—uncertain significance
rs75469741413:113,765,149G/C—uncertain significance
rs76166220013:113,765,152C/G—uncertain significance
rs55045332813:113,765,156G/A—uncertain significance
rs3620875813:113,765,158G/A—benign
rs214221274813:113,765,159A/G—likely pathogenic
rs156690682713:113,765,165G/A—pathogenic
rs277403313:113,765,235G/A—benign
rs56518598913:113,766,010C/T——
rs53638309313:113,766,225C/T—likely benign
rs12196493213:113,768,193A/Gmissense variantpathogenic
rs250303512413:113,768,200G/A—uncertain significance
rs12196493313:113,768,207C/Astop gainedpathogenic
rs15052553613:113,768,260G/A—conflicting classifications of pathogenicity
rs105607155513:113,768,275G/C—pathogenic
rs75731817513:113,768,288T/G—not provided
rs3620876213:113,768,531G/Aintron variant—
rs309323913:113,768,585C/T—benign
rs56955713:113,769,917G/A—benign
rs250304111613:113,769,987G/T—uncertain significance
rs250304115113:113,769,994T/C—likely pathogenic
rs214222454413:113,770,000A/C—uncertain significance
rs14679586913:113,770,003G/T—pathogenic
rs56397250413:113,770,009G/A—likely pathogenic
rs76345849013:113,770,012G/A—conflicting classifications of pathogenicity
rs214222465113:113,770,017T/G—uncertain significance
rs20001636013:113,770,022A/G—pathogenic
rs77146563213:113,770,040C/T—uncertain significance
rs203618224913:113,770,049A/G—uncertain significance
rs77983411313:113,770,051C/T—uncertain significance
rs37513479013:113,770,052G/A—conflicting classifications of pathogenicity
rs75504839413:113,770,054T/C—uncertain significance
rs77817434713:113,770,061G/A—uncertain significance
rs604213:113,770,068C/T—benign
rs125869129213:113,770,090G/A—uncertain significance
rs604013:113,770,092C/A—uncertain significance
rs37200565113:113,770,093G/A—uncertain significance
rs147969345913:113,770,108C/T—uncertain significance
rs76474190913:113,770,192G/A—pathogenic
rs48870313:113,770,876G/A—benign
rs37257756813:113,771,091T/C—pathogenic
rs203620000313:113,771,092G/A—uncertain significance
rs125020426113:113,771,097A/G—conflicting classifications of pathogenicity
rs14121910813:113,771,107T/G—uncertain significance
rs26760679013:113,771,136C/Tstop gainedpathogenic
rs75615176413:113,771,142C/T—pathogenic
rs118690113813:113,771,154G/C—likely pathogenic
rs143850383613:113,771,155G/A—conflicting classifications of pathogenicity
rs13930957213:113,771,160G/A—uncertain significance
rs95318489713:113,771,161T/C—uncertain significance
rs203620268813:113,771,179G/A—not provided
rs76945293313:113,771,190G/T—pathogenic
rs75068062213:113,771,776C/A—uncertain significance

Showing 100 of 221 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.