SERPINF1

serpin family F member 1

Summary

This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]

Known Variants292 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1215005317:1,664,469T/A——
rs1294838517:1,664,901G/Aupstream gene variant—
rs54115194817:1,665,262C/T—uncertain significance
rs991358317:1,665,330C/Aregulatory region variantlikely benign
rs103912786217:1,665,379C/A—uncertain significance
rs215120248017:1,665,413G/A—uncertain significance
rs5869796117:1,665,424G/A—benign
rs6649890617:1,665,603G/A—benign
rs6208817217:1,666,253C/Tregulatory region variant—
rs1245037117:1,667,674C/G——
rs14797024617:1,669,045C/Tintron variant—
rs7942405417:1,670,030G/T—likely benign
rs254347030017:1,670,208C/T—likely pathogenic
rs75783775917:1,670,210G/A—likely benign
rs13984157217:1,670,219G/T—conflicting classifications of pathogenicity
rs54762810717:1,670,222A/G—likely benign
rs91010845017:1,670,225C/A—likely benign
rs86757763217:1,670,233T/C—conflicting classifications of pathogenicity
rs78101373617:1,670,246C/T—conflicting classifications of pathogenicity
rs74794620617:1,670,247G/A—uncertain significance
rs75634913417:1,670,249G/C—likely benign
rs190742211917:1,670,266A/C—uncertain significance
rs103983575717:1,670,275G/A—uncertain significance
rs37741138417:1,670,276C/T—likely benign
rs141348789717:1,670,277C/A—uncertain significance
rs99726772617:1,670,281C/G—uncertain significance
rs77460014217:1,670,282G/A—likely benign
rs105197910917:1,670,287A/C—uncertain significance
rs123116979717:1,670,301G/A—likely benign
rs53341124917:1,670,302C/T—likely benign
rs77590935817:1,670,303G/A—likely benign
rs11247878717:1,670,328G/A—benign
rs7282244517:1,670,499C/A—benign
rs1165834217:1,673,104G/Aregulatory region variantbenign
rs20075566117:1,673,132C/T—conflicting classifications of pathogenicity
rs19973542717:1,673,133T/G—likely benign
rs15031417117:1,673,160C/T—conflicting classifications of pathogenicity
rs36911102817:1,673,161G/A—uncertain significance
rs254347640217:1,673,172G/A—likely benign
rs90209862117:1,673,174C/T—conflicting classifications of pathogenicity
rs88605264617:1,673,195C/T—uncertain significance
rs99074432517:1,673,211C/T—likely benign
rs15089908417:1,673,212G/A—benign
rs93503327417:1,673,214G/A—likely benign
rs75067734417:1,673,217C/T—uncertain significance
rs14327570017:1,673,226A/T—likely benign
rs7611906217:1,673,228C/G—likely benign
rs14005554517:1,673,229G/A—likely benign
rs77392911117:1,673,244C/T—likely benign
rs77510176417:1,673,254C/A—uncertain significance
rs76050405117:1,673,255T/C—uncertain significance
rs14382702517:1,673,263G/C—conflicting classifications of pathogenicity
rs76513703317:1,673,266C/T—likely pathogenic
rs15105965717:1,673,267G/A—uncertain significance
rs113628717:1,673,276C/Tmissense variantbenign
rs190762197917:1,673,282C/T—uncertain significance
rs14976864317:1,673,285C/T—uncertain significance
rs14677382217:1,673,286G/A—likely benign
rs74689341817:1,673,292C/T—likely benign
rs78175241817:1,673,293G/A—conflicting classifications of pathogenicity
rs215120743717:1,673,297T/C—uncertain significance
rs137455130417:1,673,299C/T—likely benign
rs14051266517:1,673,303C/G—conflicting classifications of pathogenicity
rs147981192317:1,673,310C/A—likely benign
rs190762799317:1,673,313T/G—uncertain significance
rs88605264717:1,673,318C/T—uncertain significance
rs76828433717:1,673,321C/T—uncertain significance
rs37516672617:1,673,322G/A—likely benign
rs254347708417:1,673,338T/C—uncertain significance
rs36997363017:1,673,339C/A—pathogenic
rs14725764917:1,673,340G/T—likely benign
rs159735015817:1,673,345G/T—pathogenic
rs1260382517:1,673,405G/Aregulatory region variantbenign
rs11394768717:1,674,321A/G—likely pathogenic
rs254347959817:1,674,323G/A—uncertain significance
rs37385809017:1,674,327G/A—likely benign
rs108530763417:1,674,334C/Tstop gainedpathogenic
rs190769223617:1,674,346A/G—uncertain significance
rs78105986517:1,674,355C/T—uncertain significance
rs14887230117:1,674,356G/A—uncertain significance
rs254347976017:1,674,364T/C—uncertain significance
rs74921297117:1,674,375G/T—uncertain significance
rs88605264817:1,674,384C/T—uncertain significance
rs254347993017:1,674,394C/T—uncertain significance
rs74572641017:1,674,396T/C—likely benign
rs254348000717:1,674,414C/T—likely benign
rs76572426417:1,674,422C/T—uncertain significance
rs56648660917:1,674,423G/A—likely benign
rs807484017:1,674,429C/T—benign
rs14800519017:1,674,431C/A—conflicting classifications of pathogenicity
rs180414517:1,674,434C/G—benign
rs13861057517:1,674,436C/T—pathogenic
rs254348016517:1,674,437A/G—uncertain significance
rs129856805017:1,674,460C/T—uncertain significance
rs74722223317:1,674,465C/T—conflicting classifications of pathogenicity
rs54841859817:1,674,466G/A—conflicting classifications of pathogenicity
rs122263990817:1,674,468C/G—likely benign
rs14115505817:1,674,477G/A—uncertain significance
rs76681453317:1,674,485C/T—conflicting classifications of pathogenicity
rs77490032917:1,674,486G/A—likely benign

Showing 100 of 292 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.