DEGS1

delta 4-desaturase, sphingolipid 1

Summary

This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]

Known Variants68 total

rsidPosition (GRCh37)AllelesClassClinVar
rs716447781:224,370,813T/C—benign
rs25272595401:224,371,040T/C—likely pathogenic
rs21026504591:224,371,041G/A—uncertain significance
rs25272596901:224,371,060G/T—pathogenic
rs2012201231:224,371,065C/A—likely benign
rs11564452601:224,371,087C/T—pathogenic
rs21026505451:224,371,098C/T—likely benign
rs9537815151:224,371,099G/C—uncertain significance
rs14057205231:224,371,102C/G—uncertain significance
rs21026505671:224,371,121G/C—likely pathogenic
rs16582858611:224,371,126G/A—uncertain significance
rs7804728671:224,377,295A/G—uncertain significance
rs13888840671:224,377,306T/C—conflicting classifications of pathogenicity
rs16584806271:224,377,331G/C—uncertain significance
rs7485931131:224,377,354C/T—uncertain significance
rs7721692741:224,377,365G/A—uncertain significance
rs21026559461:224,377,377G/A—uncertain significance
rs3726509881:224,377,379A/C—likely benign
rs7595812251:224,377,388G/T—uncertain significance
rs1387177621:224,377,389G/A—benign
rs7525214941:224,377,399G/Cmissense variant—
rs13285512201:224,377,433C/T—likely benign
rs13236198551:224,377,437A/G—uncertain significance
rs7554550031:224,377,446A/T—uncertain significance
rs13742661561:224,377,447T/C—uncertain significance
rs1427572711:224,377,487T/C—likely benign
rs3695496531:224,377,502A/C—likely benign
rs13820835521:224,377,516G/A—pathogenic
rs12808456041:224,377,533A/G—pathogenic
rs7511250721:224,377,551C/T—uncertain significance
rs12694551281:224,377,552C/A—uncertain significance
rs3773629661:224,377,560A/G—conflicting classifications of pathogenicity
rs25272792161:224,377,579A/T—uncertain significance
rs15582099971:224,377,591A/G—conflicting classifications of pathogenicity
rs13679584501:224,377,593C/T—likely pathogenic
rs7532566261:224,377,594G/A—uncertain significance
rs7473760611:224,377,614G/A—likely benign
rs3711442961:224,377,616C/T—likely benign
rs15582100971:224,377,696C/G—uncertain significance
rs7781953331:224,377,703T/C—likely benign
rs9321834171:224,377,713C/T—pathogenic
rs25272800281:224,377,714G/C—uncertain significance
rs1911448641:224,377,720T/A—benign
rs66864491:224,377,724C/T—benign
rs1841052291:224,377,744C/T—uncertain significance
rs7718641221:224,377,761A/G—conflicting classifications of pathogenicity
rs25272803841:224,377,765C/T—likely benign
rs7727990511:224,377,766C/T—likely benign
rs7659853531:224,377,769G/A—likely benign
rs7761856441:224,377,778C/G—benign
rs7520153981:224,377,813T/C—uncertain significance
rs5498961771:224,377,830A/G—uncertain significance
rs1464615761:224,377,904C/G—uncertain significance
rs7600437271:224,377,953A/G—uncertain significance
rs7590231731:224,377,955C/A—likely benign
rs7681801961:224,377,960A/G—pathogenic
rs7701971831:224,377,971C/T—likely pathogenic
rs617328631:224,377,996A/G—benign
rs3771789971:224,378,005G/C—uncertain significance
rs559775211:224,378,232G/T—benign
rs12731168841:224,380,033G/A—likely pathogenic
rs15582110701:224,380,047C/T—likely pathogenic
rs15720451831:224,380,086G/A—uncertain significance
rs1483339311:224,380,094G/C—likely benign
rs7487396411:224,380,098T/C—uncertain significance
rs7654440711:224,380,158A/C—uncertain significance
rs9088041:224,380,234A/G—benign
rs109164581:224,380,324A/G—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.