SGCE

sarcoglycan epsilon

Summary

This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]

Known Variants476 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1129549477:94,214,639A/G—uncertain significance
rs1931723067:94,214,710T/C—benign
rs7788666257:94,214,815G/A—uncertain significance
rs15844604517:94,214,837G/A—likely benign
rs17967738037:94,214,841G/T—uncertain significance
rs17967745487:94,214,845G/A—likely benign
rs7725092287:94,217,056A/G—likely benign
rs3705844397:94,217,115C/T—likely benign
rs77831987:94,217,190A/T—benign
rs24848379087:94,217,982T/C—likely benign
rs7612788777:94,217,983A/G—likely benign
rs7682334987:94,217,989C/A—likely benign
rs14172249387:94,218,003G/A—uncertain significance
rs7763136137:94,218,004T/C—uncertain significance
rs3715681017:94,218,013G/C—uncertain significance
rs13662431147:94,218,015T/C—uncertain significance
rs10230912957:94,218,021A/G—uncertain significance
rs7627208427:94,218,023C/G—uncertain significance
rs24848386087:94,218,027G/C—uncertain significance
rs12082717077:94,218,033T/G—uncertain significance
rs1428543347:94,218,054A/G—benign
rs5363111437:94,220,356G/A——
rs1839517307:94,227,273C/T—likely benign
rs5592359927:94,227,275C/T—benign
rs102475627:94,227,276T/G—benign
rs3688926957:94,227,288C/T—uncertain significance
rs412788037:94,227,815T/C—benign
rs1161581457:94,227,846T/C—likely benign
rs24849212707:94,228,071C/G—likely benign
rs12623680567:94,228,072T/C—likely benign
rs24849213307:94,228,073A/G—likely benign
rs7594353387:94,228,092C/G—likely benign
rs5601549227:94,228,093G/A—uncertain significance
rs24849216897:94,228,095T/C—likely benign
rs15628004807:94,228,102A/G—uncertain significance
rs1473877407:94,228,103A/G—likely benign
rs24849218417:94,228,106G/A—uncertain significance
rs10396566227:94,228,119A/G—likely benign
rs17987892827:94,228,122A/G—likely benign
rs1486606017:94,228,123T/C—uncertain significance
rs15845214587:94,228,126T/C—uncertain significance
rs7586801537:94,228,134G/A—likely benign
rs24849222527:94,228,138A/G—uncertain significance
rs21166744357:94,228,142G/A—uncertain significance
rs178519237:94,228,144G/A—conflicting classifications of pathogenicity
rs7474275747:94,228,145G/C—uncertain significance
rs7817812627:94,228,154C/T—uncertain significance
rs2000209227:94,228,162A/G—uncertain significance
rs1507977177:94,228,163C/T—uncertain significance
rs7691258107:94,228,164A/G—likely benign
rs3746975677:94,228,175C/G—conflicting classifications of pathogenicity
rs3682766117:94,228,182C/T—likely benign
rs3708009437:94,228,183G/C—uncertain significance
rs7593966457:94,228,184T/C—uncertain significance
rs7673084517:94,228,185T/C—likely benign
rs12747608117:94,228,187A/G—uncertain significance
rs21166757667:94,228,189A/C—uncertain significance
rs8860443437:94,228,196A/G—uncertain significance
rs13410482807:94,228,199C/T—uncertain significance
rs7651932557:94,228,201A/G—uncertain significance
rs7505564057:94,228,205C/T—uncertain significance
rs8860436027:94,228,206T/G—uncertain significance
rs7630649397:94,228,211T/G—uncertain significance
rs7667644107:94,228,212C/T—likely benign
rs17988086457:94,228,218C/T—uncertain significance
rs7519677467:94,228,219A/G—uncertain significance
rs3739044567:94,228,225C/T—uncertain significance
rs1219084927:94,228,226G/Astop gainedpathogenic
rs7816992327:94,228,231T/C—uncertain significance
rs9688746677:94,228,233C/T—likely benign
rs7530926227:94,228,234T/C—uncertain significance
rs9788685287:94,228,236G/T—likely benign
rs7566726717:94,228,239A/T—likely benign
rs17988137907:94,228,249A/G—uncertain significance
rs21166772877:94,228,262G/A—uncertain significance
rs24849243977:94,228,265C/T—uncertain significance
rs9832979047:94,228,266C/T—likely benign
rs1390623607:94,228,268G/C—uncertain significance
rs8860625207:94,228,275G/A—uncertain significance
rs3680438327:94,228,277T/C—likely pathogenic
rs9654379687:94,228,278A/G—uncertain significance
rs12277719847:94,228,281T/C—likely benign
rs1181765667:94,228,317A/G—benign
rs24849318477:94,228,990C/G—likely benign
rs24849318767:94,228,992G/A—likely benign
rs9514286137:94,228,993G/T—likely benign
rs3717684617:94,228,995A/G—likely benign
rs24849319577:94,228,998A/T—likely benign
rs17989135767:94,229,000G/A—likely benign
rs7679511667:94,229,004C/G—uncertain significance
rs17989159117:94,229,010C/G—uncertain significance
rs7565521027:94,229,011T/C—likely benign
rs9831568307:94,229,013G/A—uncertain significance
rs21166848727:94,229,015G/T—uncertain significance
rs15628031587:94,229,019G/T—uncertain significance
rs24849323287:94,229,021A/G—uncertain significance
rs12066833177:94,229,022T/C—uncertain significance
rs17989215217:94,229,027C/G—uncertain significance
rs24849324997:94,229,028T/C—uncertain significance
rs15845267497:94,229,035C/G—likely benign

Showing 100 of 476 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.