ALG1

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

Summary

The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]

Known Variants672 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1752331016:5,121,692C/A—benign
rs76147638816:5,121,841G/T—likely benign
rs134028913616:5,121,856G/T—likely benign
rs250584458016:5,121,857G/A—uncertain significance
rs55980505416:5,121,858C/A—likely benign
rs55209434516:5,121,859C/T—likely benign
rs250584460216:5,121,861C/A—pathogenic
rs100709326916:5,121,862A/T—likely benign
rs75217911316:5,121,863T/C—uncertain significance
rs75292246116:5,121,865C/Astop gainedpathogenic
rs195682105916:5,121,866T/C—likely benign
rs75827422916:5,121,868G/T—conflicting classifications of pathogenicity
rs19989155216:5,121,869G/A—conflicting classifications of pathogenicity
rs78071190816:5,121,870T/G—uncertain significance
rs14938853516:5,121,871C/T—likely benign
rs14471218816:5,121,872C/T—likely benign
rs77137032216:5,121,875C/G—uncertain significance
rs76011470316:5,121,877G/T—likely benign
rs76745525016:5,121,879C/T—uncertain significance
rs135950623316:5,121,880G/T—likely benign
rs56777627216:5,121,881C/T—likely benign
rs99155541316:5,121,883G/T—likely benign
rs36918013916:5,121,886T/C—likely benign
rs75810406316:5,121,887C/G—uncertain significance
rs75140902816:5,121,889G/C—likely benign
rs75494744416:5,121,890C/T—likely benign
rs78062210016:5,121,892G/T—likely benign
rs195682232516:5,121,893C/T—likely benign
rs250584494616:5,121,899C/T—likely benign
rs76935940816:5,121,903T/C—uncertain significance
rs119806433216:5,121,904G/A—likely benign
rs55667132416:5,121,905C/T—likely benign
rs7869490616:5,121,910G/A—likely benign
rs77115300916:5,121,911G/T—pathogenic
rs214269832416:5,121,914G/A—uncertain significance
rs138662650016:5,121,920A/G—uncertain significance
rs195682306016:5,121,923C/T—uncertain significance
rs36961004316:5,121,925C/G—likely benign
rs135398850816:5,121,933G/C—uncertain significance
rs75406091416:5,121,937G/T—likely benign
rs76212318616:5,121,938C/A—likely benign
rs155545097616:5,121,943G/A—likely benign
rs37672376616:5,121,945C/A—conflicting classifications of pathogenicity
rs141921047416:5,121,946C/A—likely benign
rs57219739216:5,121,947C/T—uncertain significance
rs250584524916:5,121,952T/C—likely benign
rs214269851816:5,121,969T/C—uncertain significance
rs250584533916:5,121,970G/C—likely benign
rs139328269616:5,121,971G/A—uncertain significance
rs75694289016:5,121,973C/T—conflicting classifications of pathogenicity
rs120306780716:5,121,976C/T—likely benign
rs133673226216:5,121,981G/T—likely pathogenic
rs250584540716:5,121,982C/T—likely benign
rs77909273516:5,121,985C/T—likely benign
rs14866591216:5,121,988C/T—likely benign
rs105108244316:5,121,992C/T—uncertain significance
rs79472694416:5,121,999A/G—conflicting classifications of pathogenicity
rs14438024416:5,122,000G/A—likely benign
rs146354317716:5,122,006C/T—likely benign
rs77677278016:5,122,009G/C—likely benign
rs195682487716:5,122,010C/G—uncertain significance
rs214269865916:5,122,012G/T—likely benign
rs214269867616:5,122,015G/C—likely benign
rs156716559816:5,122,019G/A—uncertain significance
rs195682506116:5,122,023T/C—uncertain significance
rs77337211016:5,122,026A/C—uncertain significance
rs36904785216:5,122,027C/T—likely benign
rs250584563216:5,122,033C/T—likely benign
rs125370894316:5,122,035C/A—pathogenic
rs76735139816:5,122,036G/T—likely benign
rs214269877716:5,122,039G/A—likely benign
rs14547482016:5,122,041C/T—uncertain significance
rs57407569516:5,122,043C/T—uncertain significance
rs75340585116:5,122,046C/T—likely benign
rs77862697216:5,122,050G/T—uncertain significance
rs137712295816:5,122,051G/A—likely benign
rs131492355816:5,122,053T/A—uncertain significance
rs54534716616:5,122,054C/T—likely benign
rs131316626316:5,122,059G/C—likely pathogenic
rs77706244716:5,122,070A/G—likely benign
rs79472694516:5,122,071G/A—conflicting classifications of pathogenicity
rs74825393716:5,122,072G/A—benign
rs130249470716:5,122,077G/A—likely benign
rs128194833416:5,122,083G/T—likely pathogenic
rs804529416:5,122,681G/C—benign
rs805053216:5,122,768T/G—benign
rs804547316:5,122,784C/G—benign
rs229195316:5,122,879G/T—benign
rs229195216:5,122,880C/T—benign
rs250584818116:5,122,932G/A—likely benign
rs53667103616:5,122,934A/C—likely benign
rs250584819116:5,122,936C/T—likely benign
rs74864946316:5,122,937A/G—likely benign
rs76987033516:5,122,938T/A—likely benign
rs74944644316:5,122,942C/T—likely benign
rs144084127916:5,122,948T/A—likely benign
rs77461868116:5,122,950A/G—likely pathogenic
rs127027636816:5,122,951G/C—likely pathogenic
rs137698457916:5,122,953C/T—likely benign
rs20060540816:5,122,955C/T—pathogenic

Showing 100 of 672 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.