PIGW

phosphatidylinositol glycan anchor biosynthesis class W

Summary

The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]

Known Variants245 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1165000817:34,892,731C/A—benign
rs37663459617:34,892,955C/A—uncertain significance
rs77807382917:34,892,957G/A—uncertain significance
rs207415055417:34,892,962G/A—likely benign
rs105386980317:34,892,965G/T—uncertain significance
rs77110823817:34,892,971G/A—benign
rs74596717517:34,892,984A/G—uncertain significance
rs52937817417:34,893,004C/G—likely benign
rs77305339917:34,893,005G/A—uncertain significance
rs143960371617:34,893,008C/T—likely benign
rs76029576017:34,893,019C/T—likely benign
rs214261369017:34,893,024G/A—uncertain significance
rs251022584017:34,893,027T/C—pathogenic
rs159947613317:34,893,050C/T—likely benign
rs251022592417:34,893,052G/A—likely benign
rs14206703917:34,893,056A/G—conflicting classifications of pathogenicity
rs251022600717:34,893,066T/C—uncertain significance
rs251022606317:34,893,075T/G—uncertain significance
rs155560021017:34,893,082G/A—likely benign
rs37532471317:34,893,094T/C—likely benign
rs214261410917:34,893,097T/C—likely benign
rs11244371117:34,893,102C/T—uncertain significance
rs74806819917:34,893,103T/C—likely benign
rs127645054517:34,893,105C/T—uncertain significance
rs77205014417:34,893,106C/G—likely benign
rs251022616917:34,893,108G/A—uncertain significance
rs207415377717:34,893,109G/A—uncertain significance
rs136790705117:34,893,121C/T—likely benign
rs251022623117:34,893,128G/A—pathogenic
rs95135949017:34,893,136T/C—likely benign
rs207415440917:34,893,140C/T—likely benign
rs108530774717:34,893,150C/T—uncertain significance
rs76464788517:34,893,163T/G—likely benign
rs76352426017:34,893,166G/A—likely benign
rs116139477617:34,893,172T/C—likely benign
rs143144405917:34,893,176G/A—uncertain significance
rs76268104917:34,893,180C/T—uncertain significance
rs76771442017:34,893,184T/A—uncertain significance
rs127236428117:34,893,188C/T—uncertain significance
rs75642056317:34,893,198T/G—uncertain significance
rs37025121917:34,893,202C/T—likely benign
rs11778960617:34,893,203G/A—benign
rs251022648217:34,893,212A/G—uncertain significance
rs77063424817:34,893,231T/A—conflicting classifications of pathogenicity
rs14472406817:34,893,242T/C—uncertain significance
rs135800482017:34,893,244C/T—likely benign
rs74549371317:34,893,245C/T—uncertain significance
rs76961915217:34,893,246G/C—uncertain significance
rs76257587317:34,893,257T/C—uncertain significance
rs214261523417:34,893,258G/T—uncertain significance
rs53732334717:34,893,259C/G—conflicting classifications of pathogenicity
rs75292744017:34,893,263G/A—uncertain significance
rs14852056517:34,893,270T/G—uncertain significance
rs251022672617:34,893,272C/T—uncertain significance
rs251022673017:34,893,273C/T—uncertain significance
rs207415751117:34,893,278C/G—uncertain significance
rs143382133417:34,893,309G/A—uncertain significance
rs119125106117:34,893,310T/C—likely benign
rs7281837017:34,893,326G/A—benign
rs76952274117:34,893,335A/G—uncertain significance
rs129255563117:34,893,347C/T—uncertain significance
rs99730556617:34,893,348G/A—uncertain significance
rs76828017917:34,893,350G/A—uncertain significance
rs15060456917:34,893,355T/C—likely benign
rs76220812617:34,893,357C/G—uncertain significance
rs214261593117:34,893,360G/A—uncertain significance
rs76104621917:34,893,363C/T—conflicting classifications of pathogenicity
rs115643057617:34,893,374A/G—uncertain significance
rs75406127917:34,893,381T/G—uncertain significance
rs251022701317:34,893,386G/T—uncertain significance
rs251022702317:34,893,389G/A—uncertain significance
rs123723302517:34,893,405T/G—uncertain significance
rs125677360717:34,893,410A/G—pathogenic
rs117031149017:34,893,412A/T—pathogenic
rs159947736117:34,893,414G/T—uncertain significance
rs214261628017:34,893,415A/C—uncertain significance
rs75711138217:34,893,435A/G—uncertain significance
rs214261635117:34,893,438G/T—uncertain significance
rs54324227417:34,893,441C/T—uncertain significance
rs137347613717:34,893,451G/C—uncertain significance
rs214261654517:34,893,480G/A—uncertain significance
rs36800817117:34,893,483C/G—conflicting classifications of pathogenicity
rs74772983017:34,893,487A/G—likely benign
rs207416085617:34,893,497C/G—uncertain significance
rs54495307417:34,893,510G/A—uncertain significance
rs251022729017:34,893,513G/C—uncertain significance
rs37156814017:34,893,520T/C—likely benign
rs75373005517:34,893,549C/T—uncertain significance
rs251022734217:34,893,550A/G—likely benign
rs74754980317:34,893,557T/C—likely benign
rs1295274417:34,893,558T/G—uncertain significance
rs13978383417:34,893,563T/G—uncertain significance
rs133493981317:34,893,569T/A—uncertain significance
rs3612680317:34,893,573C/T—uncertain significance
rs77694928317:34,893,574A/G—likely benign
rs117742462517:34,893,584C/T—likely benign
rs14528308517:34,893,587G/A—uncertain significance
rs77578683617:34,893,592C/T—likely benign
rs88679438117:34,893,593G/A—uncertain significance
rs14762285217:34,893,596C/T—conflicting classifications of pathogenicity

Showing 100 of 245 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.