NEU1

neuraminidase 1

Summary

The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]

Known Variants259 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24456896:31,826,153G/Adownstream gene variant—
rs6220766:31,826,705G/Adownstream gene variant—
rs14358213326:31,826,852T/C—uncertain significance
rs7496717046:31,826,900C/A—uncertain significance
rs5512222396:31,826,915C/T—benign
rs8860612866:31,826,972G/A—uncertain significance
rs8860612876:31,827,042T/C—uncertain significance
rs1138245276:31,827,051A/C—likely benign
rs9087456636:31,827,202C/T—uncertain significance
rs8860612886:31,827,227G/A—uncertain significance
rs131186:31,827,286A/T—benign
rs9681211096:31,827,316C/T—uncertain significance
rs17624244966:31,827,427C/T—uncertain significance
rs7632124866:31,827,497C/G—uncertain significance
rs1146189326:31,827,505C/T—likely benign
rs21515436436:31,827,517G/A—likely benign
rs17624283146:31,827,527A/T—uncertain significance
rs7676335896:31,827,528C/T—uncertain significance
rs7504742476:31,827,529G/A—likely benign
rs9318057216:31,827,544G/A—likely benign
rs13331473266:31,827,553C/G—likely benign
rs2017584816:31,827,554C/T—conflicting classifications of pathogenicity
rs7650749096:31,827,555G/A—uncertain significance
rs7525533476:31,827,568C/T—likely benign
rs12869010726:31,827,570G/C—uncertain significance
rs7775101546:31,827,573C/T—conflicting classifications of pathogenicity
rs7466077236:31,827,574G/Asynonymous variantuncertain significance
rs15818180446:31,827,580C/T—likely benign
rs7808884896:31,827,583G/C—likely benign
rs12307857876:31,827,584G/C—uncertain significance
rs24813923506:31,827,586G/C—likely benign
rs7453647216:31,827,590T/C—uncertain significance
rs17624322246:31,827,592C/T—likely benign
rs13935765996:31,827,607G/A—likely benign
rs24813925566:31,827,613C/T—likely benign
rs1048939716:31,827,615C/Astop gainedpathogenic
rs24813925926:31,827,619G/A—likely benign
rs17624335456:31,827,625C/G—likely benign
rs13102678626:31,827,635T/C—pathogenic
rs1508640716:31,827,637G/T—conflicting classifications of pathogenicity
rs24813928806:31,827,647C/A—uncertain significance
rs21515438236:31,827,651G/C—uncertain significance
rs7576843736:31,827,655T/C—conflicting classifications of pathogenicity
rs1939229156:31,827,656A/Gmissense variantpathogenic
rs7677256286:31,827,660G/A—pathogenic
rs1393018236:31,827,674C/T—uncertain significance
rs7724260696:31,827,675G/A—conflicting classifications of pathogenicity
rs8966960596:31,827,679T/A—likely benign
rs21515438706:31,827,688A/G—likely benign
rs17624375096:31,827,703T/A—likely benign
rs13946993166:31,827,704C/T—pathogenic
rs12782798286:31,827,705G/A—pathogenic
rs17624377416:31,827,709G/A—likely benign
rs7509757166:31,827,710G/A—conflicting classifications of pathogenicity
rs7513686116:31,827,727G/C—likely benign
rs11939848956:31,827,737A/G—likely benign
rs24813940066:31,827,801C/G—likely benign
rs5679070556:31,827,804C/G—benign
rs7641213236:31,827,815T/A—conflicting classifications of pathogenicity
rs14869801396:31,827,818C/G—pathogenic
rs7514586176:31,827,819G/A—pathogenic
rs13629808036:31,827,823C/T—likely benign
rs7673109196:31,827,825C/T—uncertain significance
rs7499960466:31,827,836G/T—pathogenic
rs9565602516:31,827,838G/A—likely benign
rs15818186996:31,827,843A/G—uncertain significance
rs5348467866:31,827,858C/T—pathogenic
rs7533873416:31,827,859G/A—likely benign
rs24813943836:31,827,865G/C—likely benign
rs17624443206:31,827,872A/G—uncertain significance
rs12685589896:31,827,874A/G—likely benign
rs7723831726:31,827,883A/G—likely benign
rs1048939796:31,827,894G/Amissense variantpathogenic
rs1499925936:31,827,901G/A—likely benign
rs2013795466:31,827,904C/T—likely benign
rs15542523196:31,827,906C/T—uncertain significance
rs7766407896:31,827,908G/C—uncertain significance
rs7596468196:31,827,912C/T—likely pathogenic
rs7743628866:31,827,926C/T—uncertain significance
rs7617240546:31,827,927G/A—pathogenic
rs7502036756:31,827,929G/A—conflicting classifications of pathogenicity
rs24813949066:31,827,933T/G—likely benign
rs5574096406:31,827,936G/C—likely benign
rs24813949546:31,827,940A/G—likely benign
rs1048939816:31,827,947G/Amissense variantpathogenic
rs17624515736:31,827,951C/T—uncertain significance
rs7544229826:31,827,952A/G—conflicting classifications of pathogenicity
rs21515441996:31,827,953T/C—likely pathogenic
rs24813950486:31,827,954A/G—uncertain significance
rs7794313566:31,827,959C/T—likely benign
rs1905498386:31,827,960G/A—pathogenic
rs13840041496:31,827,961G/A—likely benign
rs7588772436:31,827,971C/T—conflicting classifications of pathogenicity
rs7780360886:31,827,972G/A—pathogenic
rs13636891676:31,827,977T/C—uncertain significance
rs24813953246:31,828,001C/T—likely pathogenic
rs9453720176:31,828,002G/A—pathogenic
rs13769454886:31,828,003G/T—likely benign
rs1996973016:31,828,014C/T—uncertain significance
rs7459465706:31,828,015G/A—likely benign

Showing 100 of 259 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.