PIGL

phosphatidylinositol glycan anchor biosynthesis class L

Summary

This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Known Variants118 total

rsidPosition (GRCh37)AllelesClassClinVar
rs15000073117:16,120,544G/A—uncertain significance
rs135228443117:16,120,546A/C—uncertain significance
rs37105403417:16,120,557T/G—uncertain significance
rs74777491217:16,120,559C/T—likely benign
rs74639908317:16,120,561G/A—likely benign
rs52869774417:16,120,564T/G—uncertain significance
rs117339243117:16,120,565G/T—uncertain significance
rs14766992017:16,120,570G/T—uncertain significance
rs255213741817:16,120,575C/A—uncertain significance
rs88603969117:16,120,600G/Astop gainedpathogenic
rs75147512417:16,120,619C/A—likely benign
rs77920563617:16,120,629G/A—conflicting classifications of pathogenicity
rs77674216317:16,120,670C/T—uncertain significance
rs76199170017:16,120,672G/C—likely benign
rs76284502817:16,120,684G/A—likely benign
rs146878745717:16,120,689C/T—uncertain significance
rs209258708017:16,120,694G/A—likely pathogenic
rs76621941917:16,120,701C/T—uncertain significance
rs75156096017:16,120,703A/G—uncertain significance
rs58778432417:16,120,709T/C—uncertain significance
rs105751894817:16,120,716C/A—uncertain significance
rs76969241517:16,120,758T/C—uncertain significance
rs17879517:16,123,873G/Aupstream gene variant—
rs106479540017:16,137,311C/Gmissense variantuncertain significance
rs75538050017:16,137,312G/A—uncertain significance
rs117911368417:16,137,345T/G—uncertain significance
rs77929371717:16,137,357T/C—likely benign
rs143445199417:16,137,373T/C—likely benign
rs18957202917:16,137,382C/T—likely benign
rs121881110717:16,137,393T/C—likely benign
rs721507117:16,141,249C/T——
rs991622017:16,145,084T/Aintron variant—
rs1293652917:16,168,784C/Tintron variant—
rs991014817:16,169,009G/Aintron variant—
rs721099017:16,170,764C/Aintron variant—
rs1215056417:16,172,752A/Gintron variant—
rs1293839417:16,177,910A/Gintron variant—
rs95029420917:16,203,185G/A—likely benign
rs139629599017:16,203,188C/T—likely benign
rs37503705417:16,203,199T/C—uncertain significance
rs36923045717:16,203,200A/G—pathogenic
rs11467080717:16,203,203G/T—conflicting classifications of pathogenicity
rs75087882517:16,203,212G/A—uncertain significance
rs14909427617:16,203,220A/G—conflicting classifications of pathogenicity
rs75247608417:16,203,250C/T—likely benign
rs209299744217:16,203,251A/G—uncertain significance
rs74920257217:16,203,264A/G—uncertain significance
rs37471393317:16,203,286C/T—uncertain significance
rs11595846717:16,203,290C/A—conflicting classifications of pathogenicity
rs14591458217:16,203,300G/A—uncertain significance
rs36902615917:16,203,302C/T—likely benign
rs13846728517:16,203,306T/C—uncertain significance
rs232430717:16,204,669C/Gintron variant—
rs1293887817:16,216,605A/C—benign
rs77008412617:16,216,860G/A—pathogenic
rs77359113517:16,216,872C/A—likely pathogenic
rs14823849217:16,216,873G/A—uncertain significance
rs14021119417:16,216,880G/C—conflicting classifications of pathogenicity
rs76172768817:16,216,907T/C—uncertain significance
rs11469737717:16,216,914G/A—conflicting classifications of pathogenicity
rs18407785817:16,216,927A/C—uncertain significance
rs214286488317:16,216,929G/A—likely pathogenic
rs76471979117:16,216,941G/A—likely benign
rs76498417:16,216,988G/C—benign
rs378562017:16,219,049A/T——
rs100538017:16,219,792T/C—benign
rs7558374917:16,219,930C/G—likely benign
rs77940518017:16,219,979C/T—likely benign
rs14530333117:16,220,000T/Cmissense variantpathogenic
rs13841089317:16,220,036G/A—conflicting classifications of pathogenicity
rs209308427217:16,221,072G/C—likely benign
rs134683006017:16,221,080T/C—likely benign
rs36882140417:16,221,084T/C—likely benign
rs11414576217:16,221,096T/C—uncertain significance
rs11659135217:16,221,097G/A—uncertain significance
rs11569538317:16,221,102C/T—uncertain significance
rs74823102417:16,221,104C/T—uncertain significance
rs144125774917:16,221,105G/A—likely benign
rs18152829517:16,221,129C/A—likely benign
rs77189933117:16,221,136A/C—uncertain significance
rs18627503517:16,221,155C/T—uncertain significance
rs11417686217:16,221,157T/C—conflicting classifications of pathogenicity
rs13790984417:16,221,158T/C—uncertain significance
rs76681907517:16,221,167T/C—uncertain significance
rs14234399717:16,221,169C/G—uncertain significance
rs37422497617:16,221,173C/T—uncertain significance
rs14616431017:16,221,189C/T—conflicting classifications of pathogenicity
rs77796019217:16,221,190G/A—uncertain significance
rs75740882417:16,221,194T/C—uncertain significance
rs74565726817:16,221,198C/T—likely benign
rs13900472217:16,221,214C/Tstop gainedpathogenic
rs76819832717:16,221,223G/A—likely pathogenic
rs37489141717:16,221,230T/C—likely benign
rs7328702317:16,221,290C/A—benign
rs989053917:16,221,319T/C—benign
rs989300517:16,225,506C/Gintron variant—
rs102548025217:16,229,140G/A—likely benign
rs77260410717:16,229,147T/C—uncertain significance
rs96781447817:16,229,154G/A—pathogenic
rs76470206917:16,229,155C/T—likely benign

Showing 100 of 118 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.