SPG7

SPG7 matrix AAA peptidase subunit, paraplegin

Summary

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

Known Variants819 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6207031916:89,573,216C/T——
rs1333954616:89,573,230A/G——
rs478568416:89,574,576G/A—benign
rs993528916:89,574,685G/C—benign
rs53981123016:89,574,686G/C—likely benign
rs57013862516:89,574,703A/C—likely benign
rs79472690616:89,574,826A/Gmissense variantpathogenic
rs133226553816:89,574,827T/A—pathogenic
rs254366060416:89,574,828G/A—likely pathogenic
rs53503044116:89,574,829G/A—conflicting classifications of pathogenicity
rs55324183816:89,574,834G/T—likely benign
rs205795835716:89,574,836T/C—uncertain significance
rs95294694116:89,574,838C/T—likely benign
rs126938083516:89,574,841C/T—likely benign
rs118802921216:89,574,844C/A—uncertain significance
rs75369436916:89,574,846G/A—likely benign
rs136831461916:89,574,850C/T—uncertain significance
rs57787296916:89,574,853G/T—uncertain significance
rs144094557216:89,574,855C/T—likely benign
rs94318721216:89,574,857T/C—uncertain significance
rs131934709416:89,574,858C/T—conflicting classifications of pathogenicity
rs92319796716:89,574,862C/G—conflicting classifications of pathogenicity
rs124238069016:89,574,865G/A—uncertain significance
rs75704631016:89,574,868C/T—uncertain significance
rs254366132016:89,574,873C/T—likely benign
rs95630432616:89,574,875C/A—uncertain significance
rs205795983616:89,574,877G/A—uncertain significance
rs137172940516:89,574,878G/T—uncertain significance
rs155560840416:89,574,882T/C—likely benign
rs86322422216:89,574,883C/T—uncertain significance
rs116738329116:89,574,891G/C—uncertain significance
rs145723886716:89,574,894G/A—conflicting classifications of pathogenicity
rs76372189916:89,574,901G/T—uncertain significance
rs254366163716:89,574,903C/A—likely benign
rs87885460516:89,574,905C/G—uncertain significance
rs75701371116:89,574,907G/A—uncertain significance
rs131466031316:89,574,911G/A—pathogenic
rs159759743716:89,574,912G/A—pathogenic
rs86322421516:89,574,914G/A—uncertain significance
rs254366177916:89,574,915T/G—uncertain significance
rs86322421616:89,574,920G/A—conflicting classifications of pathogenicity
rs133124381316:89,574,924C/G—uncertain significance
rs89154378416:89,574,925C/A—uncertain significance
rs125520808716:89,574,926C/T—uncertain significance
rs118056179516:89,574,944G/T—uncertain significance
rs18733064816:89,574,945G/A—benign
rs90601568616:89,574,949C/T—uncertain significance
rs254366228816:89,574,957G/T—uncertain significance
rs254366236416:89,574,964A/G—uncertain significance
rs88605247316:89,574,966G/A—uncertain significance
rs128634293216:89,574,969T/G—likely benign
rs75829485116:89,574,971C/T—uncertain significance
rs116173992216:89,574,977A/T—uncertain significance
rs75061733716:89,574,986A/G—uncertain significance
rs205796330616:89,574,989C/A—uncertain significance
rs1155907416:89,574,992G/A—uncertain significance
rs130601207216:89,575,007A/G—uncertain significance
rs135617830016:89,575,015C/T—uncertain significance
rs78153642616:89,575,020C/A—likely benign
rs136549104316:89,575,028G/T—likely benign
rs14603276216:89,576,598G/C—likely benign
rs423883116:89,576,663G/A—benign
rs392263416:89,576,766T/C—benign
rs53377804216:89,576,894T/C—conflicting classifications of pathogenicity
rs78060156116:89,576,895C/A—uncertain significance
rs148887423816:89,576,898A/C—uncertain significance
rs14329468616:89,576,899G/A—uncertain significance
rs74884734516:89,576,904C/G—uncertain significance
rs14829662716:89,576,906A/G—likely benign
rs75947094016:89,576,907T/C—likely benign
rs205800398016:89,576,911G/T—uncertain significance
rs14831547116:89,576,913C/T—conflicting classifications of pathogenicity
rs56636352816:89,576,918A/G—likely benign
rs254367216516:89,576,924T/A—likely benign
rs75397327416:89,576,925A/G—uncertain significance
rs11485479116:89,576,934G/A—conflicting classifications of pathogenicity
rs75881636816:89,576,936G/T—uncertain significance
rs36998983216:89,576,942C/T—likely benign
rs77709297416:89,576,943G/A—uncertain significance
rs12191835816:89,576,947T/Astop gainedpathogenic
rs77048706216:89,576,948G/T—conflicting classifications of pathogenicity
rs14611579716:89,576,958C/T—pathogenic
rs142195756616:89,576,960A/G—likely benign
rs101112878416:89,576,962A/G—uncertain significance
rs13896530916:89,576,964T/C—conflicting classifications of pathogenicity
rs77650528516:89,576,978A/C—likely benign
rs76201748116:89,576,984A/C—uncertain significance
rs145225957516:89,577,001G/T—likely pathogenic
rs20105640516:89,577,003A/G—uncertain significance
rs392263316:89,577,046C/T—benign
rs11597333916:89,577,148C/A—likely benign
rs14628793516:89,577,218G/A—likely benign
rs54174890416:89,577,808T/A——
rs98227718816:89,577,853A/G—pathogenic
rs14784272316:89,579,005C/Tintron variant—
rs3546314516:89,579,076A/G—benign
rs1107660516:89,579,123G/A—benign
rs20131546616:89,579,286A/C—likely benign
rs76000615816:89,579,341C/G—likely benign
rs205804113516:89,579,357T/G—likely benign

Showing 100 of 819 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.