PIGG

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

Summary

This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Known Variants846 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1397888854:492,748C/G—benign
rs5336684224:492,794T/G—likely benign
rs1897945784:492,915T/C—likely benign
rs5344743324:492,918T/C—likely benign
rs1431639754:492,931G/A—benign
rs1145378194:492,967C/T—likely benign
rs15769833394:493,125A/G—likely pathogenic
rs12078259094:493,128C/A—likely benign
rs14500686794:493,129G/A—uncertain significance
rs15538739434:493,132T/G—uncertain significance
rs21087361934:493,138C/A—uncertain significance
rs24744595534:493,141G/A—uncertain significance
rs7821463124:493,146T/C—uncertain significance
rs1821684364:493,147T/C—uncertain significance
rs1408602544:493,148C/G—conflicting classifications of pathogenicity
rs9461011564:493,153C/A—uncertain significance
rs24744600264:493,154C/T—likely benign
rs24744601904:493,157T/C—likely benign
rs12899747014:493,159G/C—uncertain significance
rs17166596084:493,160C/T—likely benign
rs15538740024:493,163A/G—likely benign
rs13237674764:493,166G/T—likely benign
rs14067644924:493,168T/C—uncertain significance
rs7818632014:493,171A/C—uncertain significance
rs21087368434:493,180G/A—uncertain significance
rs17166737814:493,182A/G—uncertain significance
rs21087369524:493,190C/T—likely benign
rs5309183364:493,201G/T—uncertain significance
rs2019346884:493,209C/G—uncertain significance
rs13665899704:493,218G/T—uncertain significance
rs14381345544:493,226C/A—likely benign
rs15538741304:493,229T/C—likely benign
rs1446755814:493,230G/A—uncertain significance
rs21087375004:493,232C/T—likely benign
rs7821882984:493,234G/C—uncertain significance
rs14572559194:493,237C/G—uncertain significance
rs7823666644:493,238G/A—likely benign
rs17167097584:493,243A/C—uncertain significance
rs7821268724:493,244C/G—uncertain significance
rs1481854264:493,245G/A—uncertain significance
rs7827245284:493,253G/T—uncertain significance
rs15538742064:493,254C/T—uncertain significance
rs11921778504:493,255C/A—uncertain significance
rs15538742154:493,259A/C—likely benign
rs7821006824:493,262G/A—likely benign
rs7818556134:493,269C/T—uncertain significance
rs12790674554:493,271C/G—likely benign
rs7824370344:493,273C/T—uncertain significance
rs7826312304:493,275G/T—uncertain significance
rs15769847874:493,280T/C—likely pathogenic
rs17167396034:493,284G/C—uncertain significance
rs10254013034:493,291C/T—likely benign
rs7826286654:493,294C/T—likely benign
rs17167532854:493,296G/A—likely benign
rs3708980434:493,298G/C—likely benign
rs1126717264:494,046A/G—likely benign
rs7827091964:494,165T/A—likely benign
rs24744882704:494,166T/A—likely benign
rs21087467004:494,169T/C—likely benign
rs7818408544:494,170C/A—likely benign
rs15538749244:494,178C/T—likely benign
rs15769907584:494,179A/G—likely benign
rs13463708294:494,181T/G—likely benign
rs284547784:494,188C/A—likely benign
rs341208784:494,194C/G—uncertain significance
rs1389835834:494,195T/A—likely benign
rs11860696794:494,196A/G—uncertain significance
rs12437117294:494,207G/A—likely benign
rs7826236024:494,208C/G—uncertain significance
rs5612931974:494,212C/G—uncertain significance
rs5284462204:494,214C/T—conflicting classifications of pathogenicity
rs7820374264:494,220C/T—uncertain significance
rs7822833214:494,222C/A—likely benign
rs17172462754:494,241G/A—uncertain significance
rs1136349814:494,244C/G—uncertain significance
rs1432024494:494,248T/C—uncertain significance
rs14464893994:494,250G/C—uncertain significance
rs15538750714:494,251A/G—uncertain significance
rs7821037234:494,255C/T—likely benign
rs7827275234:494,258G/T—uncertain significance
rs7821178944:494,271G/T—uncertain significance
rs5511148874:494,274T/C—uncertain significance
rs15769912864:494,281C/T—uncertain significance
rs7820434284:494,286G/T—uncertain significance
rs24744918284:494,293A/T—uncertain significance
rs7818395074:494,305A/G—uncertain significance
rs3695616064:494,307A/G—likely benign
rs12579613664:494,316C/G—uncertain significance
rs12503433224:494,322G/A—uncertain significance
rs1400873554:494,325A/G—uncertain significance
rs7825294754:494,326A/C—uncertain significance
rs17172881264:494,332C/G—uncertain significance
rs13100182674:494,335C/A—uncertain significance
rs21087481984:494,345T/C—likely benign
rs15538751984:494,348G/A—likely benign
rs7822634364:494,367A/G—uncertain significance
rs24744938154:494,371T/G—uncertain significance
rs21087484644:494,372T/C—likely benign
rs15538752544:494,377T/G—uncertain significance
rs24744942204:494,381T/C—likely benign

Showing 100 of 846 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.