PIGN

phosphatidylinositol glycan anchor biosynthesis class N

Summary

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]

Known Variants1,022 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19237391618:59,687,911G/Aintergenic variant—
rs11242787318:59,712,964T/C—likely benign
rs20139739118:59,713,102C/T—conflicting classifications of pathogenicity
rs159938426618:59,713,109G/T—uncertain significance
rs251167634518:59,713,115C/T—uncertain significance
rs36929786118:59,713,117C/G—uncertain significance
rs92635047918:59,713,119T/C—likely benign
rs203063516218:59,713,121G/A—likely benign
rs77409864718:59,713,122T/C—likely benign
rs20048105818:59,713,134C/A—likely benign
rs6175536418:59,713,135G/A—uncertain significance
rs75364162318:59,713,138G/A—uncertain significance
rs75473218418:59,713,139T/C—uncertain significance
rs76430908418:59,713,140G/C—likely benign
rs251167701818:59,713,143C/A—likely benign
rs156811138518:59,713,145G/A—likely benign
rs251167715218:59,713,148G/A—uncertain significance
rs75739151718:59,713,149G/A—likely benign
rs77159590018:59,713,152C/G—likely benign
rs75093912718:59,713,155G/A—likely benign
rs75661248418:59,713,161G/A—likely benign
rs78038407918:59,713,164G/C—uncertain significance
rs214498542918:59,713,172A/G—likely benign
rs3423104618:59,713,173C/A—benign
rs74779911518:59,713,178T/C—uncertain significance
rs251167782018:59,713,179G/A—likely benign
rs77176751818:59,713,184T/C—uncertain significance
rs214498566118:59,713,185G/A—likely benign
rs214498570918:59,713,186G/C—uncertain significance
rs214498586018:59,713,190T/C—uncertain significance
rs93223872218:59,713,192A/G—uncertain significance
rs251167815418:59,713,193C/A—uncertain significance
rs251167817318:59,713,194A/T—likely benign
rs76057325518:59,713,200A/T—uncertain significance
rs126735048818:59,713,201T/C—uncertain significance
rs19957377418:59,713,206G/C—conflicting classifications of pathogenicity
rs100819690618:59,713,211T/C—uncertain significance
rs116218113218:59,713,220A/C—likely benign
rs147345728218:59,713,228A/C—likely benign
rs75932724618:59,713,232T/C—likely benign
rs14727163818:59,713,325G/A—likely benign
rs251218284318:59,739,893A/G—likely benign
rs37118765118:59,739,896T/C—likely benign
rs214571713218:59,739,899A/G—likely benign
rs214571725318:59,739,902A/G—uncertain significance
rs122689537918:59,739,903T/C—uncertain significance
rs128765596418:59,739,905C/A—pathogenic
rs155567659318:59,739,906C/T—uncertain significance
rs127562463618:59,739,907T/C—uncertain significance
rs75546211218:59,739,910T/C—uncertain significance
rs77941028518:59,739,912C/A—uncertain significance
rs251218395618:59,739,923C/G—uncertain significance
rs214571800918:59,739,927C/A—uncertain significance
rs77725470118:59,739,931C/T—uncertain significance
rs214571842318:59,739,941G/A—likely benign
rs251218473418:59,739,942A/G—uncertain significance
rs77027620918:59,739,943C/T—uncertain significance
rs156814327118:59,739,954A/C—uncertain significance
rs86876555018:59,739,958G/T—uncertain significance
rs75945366418:59,739,959C/T—likely pathogenic
rs156814331918:59,739,960T/C—likely pathogenic
rs251218680018:59,739,972A/C—likely benign
rs118861462018:59,739,976G/A—likely benign
rs124938666318:59,739,977G/C—likely benign
rs57662160718:59,741,925C/T—uncertain significance
rs11505287618:59,741,966C/A—likely benign
rs120934799418:59,741,992A/G—likely benign
rs251223650818:59,741,995A/G—likely benign
rs75552211218:59,741,997C/G—likely benign
rs14111770618:59,741,998C/T—likely benign
rs75314694118:59,741,999A/G—likely benign
rs203308222318:59,742,000G/C—likely benign
rs119053703318:59,742,007C/T—uncertain significance
rs119325637118:59,742,016G/C—uncertain significance
rs75684675518:59,742,023T/C—uncertain significance
rs251223722718:59,742,025T/C—uncertain significance
rs251223737618:59,742,030T/G—likely benign
rs74584468818:59,742,031A/G—conflicting classifications of pathogenicity
rs36762757118:59,742,035C/T—conflicting classifications of pathogenicity
rs77535709018:59,742,036G/A—conflicting classifications of pathogenicity
rs96610633318:59,742,041C/T—uncertain significance
rs214576406618:59,742,042A/G—likely benign
rs134344404518:59,742,043A/G—uncertain significance
rs137241715918:59,742,045G/C—likely benign
rs19995989518:59,742,051A/T—likely benign
rs54560095718:59,742,054G/T—uncertain significance
rs203308776018:59,742,055C/T—likely pathogenic
rs159945894318:59,742,058G/A—likely benign
rs203308953818:59,742,067A/G—likely benign
rs77907460518:59,742,069A/G—likely benign
rs54570877818:59,745,891C/T——
rs1706942318:59,749,772A/G—likely benign
rs148513893118:59,749,886C/A—likely benign
rs251237933618:59,749,888T/C—likely benign
rs251237939718:59,749,889A/C—likely benign
rs251237997618:59,749,903T/G—uncertain significance
rs203350388818:59,749,906C/G—conflicting classifications of pathogenicity
rs251238016918:59,749,907T/G—uncertain significance
rs53925908218:59,749,914C/G—likely benign
rs78078146918:59,749,915G/A—uncertain significance

Showing 100 of 1,022 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.