SYNE1

spectrin repeat containing nuclear envelope protein 1

Summary

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants5,496 total

rsidPosition (GRCh37)AllelesClassClinVar
rs28135586:152,442,821C/A—benign
rs37569336:152,442,988C/T—benign
rs8860611876:152,443,056A/G—uncertain significance
rs8860611886:152,443,122A/G—uncertain significance
rs8860611896:152,443,138T/C—uncertain significance
rs9271685926:152,443,203A/G—uncertain significance
rs8860611906:152,443,276A/G—uncertain significance
rs1163569626:152,443,290C/T—likely benign
rs5671945776:152,443,380T/C—conflicting classifications of pathogenicity
rs7663381626:152,443,385C/T—uncertain significance
rs126816:152,443,389C/T—benign
rs1508866286:152,443,390G/A—uncertain significance
rs9587544476:152,443,405C/T—uncertain significance
rs20515744076:152,443,433T/C—uncertain significance
rs22501226:152,443,468G/T—benign
rs5717196316:152,443,470G/A—uncertain significance
rs1393977876:152,443,476G/A—likely benign
rs2018913996:152,443,574G/A—likely benign
rs25490878946:152,443,581G/A—uncertain significance
rs21525244936:152,443,589A/G—likely benign
rs7549326116:152,443,590T/C—uncertain significance
rs3706455106:152,443,592C/T—likely benign
rs5673763166:152,443,593G/A—uncertain significance
rs7779851316:152,443,595G/T—uncertain significance
rs7474053466:152,443,603G/A—uncertain significance
rs7713346936:152,443,610G/A—conflicting classifications of pathogenicity
rs20516243396:152,443,613G/T—uncertain significance
rs5506973276:152,443,620C/T—uncertain significance
rs8945813896:152,443,621G/C—uncertain significance
rs3774462506:152,443,635G/C—uncertain significance
rs11988154546:152,443,640G/C—likely benign
rs11827546386:152,443,654C/T—uncertain significance
rs25490914556:152,443,657C/T—uncertain significance
rs11938791566:152,443,664C/T—uncertain significance
rs2008803416:152,443,667T/C—likely benign
rs7594470716:152,443,677C/T—uncertain significance
rs9830407626:152,443,680G/A—uncertain significance
rs7476354016:152,443,686C/T—uncertain significance
rs7584648696:152,443,687C/T—uncertain significance
rs2002408816:152,443,688G/A—likely benign
rs1397406516:152,443,693G/C—uncertain significance
rs25490932346:152,443,698A/G—uncertain significance
rs14749088336:152,443,723C/G—uncertain significance
rs21525257676:152,443,724T/C—likely benign
rs7574669636:152,443,728C/T—uncertain significance
rs7461773266:152,443,729G/A—pathogenic
rs7805745376:152,443,750C/T—uncertain significance
rs5296286006:152,443,751G/A—likely benign
rs12767745406:152,443,752C/T—uncertain significance
rs1442068376:152,443,753G/A—conflicting classifications of pathogenicity
rs7728142496:152,443,755C/A—uncertain significance
rs22951916:152,443,756C/T—benign
rs7706904886:152,443,757G/A—likely benign
rs12582132216:152,443,758G/T—uncertain significance
rs8860443166:152,443,759A/C—uncertain significance
rs22951926:152,443,761T/C—uncertain significance
rs15853153716:152,443,769C/A—likely benign
rs15543491626:152,443,770C/T—uncertain significance
rs7627695986:152,443,773G/A—uncertain significance
rs15853157186:152,443,785G/A—uncertain significance
rs7516273696:152,443,788G/A—uncertain significance
rs7676638946:152,443,792C/T—uncertain significance
rs5519621866:152,443,793G/A—likely benign
rs7802634116:152,443,807T/A—uncertain significance
rs9229216026:152,443,820A/G—likely benign
rs7498383656:152,443,821G/A—likely benign
rs12115835686:152,443,827A/T—likely benign
rs744265206:152,444,060C/T—likely benign
rs7670990686:152,446,401G/C—uncertain significance
rs584508836:152,451,646T/C—benign
rs10575237446:152,451,837A/T—likely benign
rs21526869646:152,451,847G/A—likely benign
rs25493952846:152,451,849A/G—uncertain significance
rs1512812046:152,451,856T/C—uncertain significance
rs7617207126:152,451,860A/G—likely benign
rs15628843636:152,451,866A/C—uncertain significance
rs3707219676:152,451,870C/A—uncertain significance
rs7599373826:152,451,900C/T—uncertain significance
rs7658659106:152,451,902C/T—conflicting classifications of pathogenicity
rs15543720486:152,451,908T/C—conflicting classifications of pathogenicity
rs7589423296:152,451,909C/T—uncertain significance
rs11931933356:152,451,910G/A—likely pathogenic
rs8860439566:152,451,922A/G—uncertain significance
rs25493974476:152,451,928C/T—likely benign
rs1146816146:152,452,207A/G—likely benign
rs22951936:152,453,094G/Adownstream gene variantbenign
rs736251406:152,453,106T/G—likely benign
rs1161654826:152,453,130G/A—likely benign
rs3719936216:152,453,239C/T—likely benign
rs9140119086:152,453,240G/A—likely benign
rs1395600536:152,453,258G/A—uncertain significance
rs1443701546:152,453,270T/C—uncertain significance
rs1478292006:152,453,273G/T—uncertain significance
rs20559069456:152,453,278G/T—uncertain significance
rs7535332416:152,453,279C/T—uncertain significance
rs12715913196:152,453,283T/C—uncertain significance
rs21527055856:152,453,285C/T—uncertain significance
rs355912106:152,453,291A/G—benign
rs9049416006:152,453,296A/G—likely benign
rs2016646456:152,453,307C/G—uncertain significance

Showing 100 of 5,496 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.