PIGB

phosphatidylinositol glycan anchor biosynthesis class B

Summary

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]

Known Variants283 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2866801615:55,611,433A/G—benign
rs37158482915:55,611,447G/T—uncertain significance
rs77286027515:55,611,456G/A—uncertain significance
rs37361004215:55,611,457G/A—likely benign
rs76593186315:55,611,458C/G—uncertain significance
rs36774562415:55,611,461C/T—likely benign
rs105353206515:55,611,465G/T—uncertain significance
rs124066032315:55,611,472C/T—likely benign
rs128345498515:55,611,473G/A—uncertain significance
rs74610189715:55,611,485G/A—uncertain significance
rs94271477915:55,611,486G/C—uncertain significance
rs119131749015:55,611,488G/A—uncertain significance
rs140772253415:55,611,501G/A—uncertain significance
rs76546767015:55,611,506A/G—uncertain significance
rs121542438315:55,611,519T/A—uncertain significance
rs254305198415:55,611,521C/T—pathogenic
rs104194618415:55,611,535C/A—uncertain significance
rs205510701215:55,611,536G/A—uncertain significance
rs86799115115:55,611,537G/C—uncertain significance
rs77016120315:55,611,539A/T—pathogenic
rs205510791015:55,611,545A/G—uncertain significance
rs254305225715:55,611,558G/A—uncertain significance
rs99628934815:55,611,561A/C—uncertain significance
rs55936479815:55,611,571G/C—uncertain significance
rs37188359315:55,611,574C/T—likely benign
rs128805547715:55,611,583C/T—likely benign
rs95512843415:55,611,587G/A—uncertain significance
rs118408055515:55,611,588A/G—uncertain significance
rs126881819415:55,611,592G/A—likely benign
rs18372596715:55,611,603G/A—benign
rs254305260215:55,611,606G/A—uncertain significance
rs254305260815:55,611,607C/T—likely benign
rs76403775415:55,611,609G/A—uncertain significance
rs100587097515:55,611,614G/A—uncertain significance
rs18795136715:55,611,617T/C—uncertain significance
rs54310192215:55,611,623G/C—likely benign
rs254305271315:55,611,625C/T—likely benign
rs77044385515:55,612,454G/C—likely benign
rs205513294315:55,612,474T/C—uncertain significance
rs75890243415:55,612,496C/T—likely benign
rs1785155615:55,612,511A/T—likely benign
rs36983846715:55,612,521G/A—pathogenic
rs254305680715:55,612,531C/T—likely benign
rs129994142115:55,612,534C/A—conflicting classifications of pathogenicity
rs78140392515:55,612,543G/A—likely benign
rs254305719215:55,612,586G/A—uncertain significance
rs37399308915:55,612,591A/G—likely benign
rs254305725215:55,612,593A/G—uncertain significance
rs77652457515:55,612,608A/G—uncertain significance
rs205513624515:55,612,609A/G—uncertain significance
rs143242891815:55,612,621G/A—likely benign
rs254305747915:55,612,626T/C—likely benign
rs254306104515:55,613,451T/C—likely benign
rs254306109515:55,613,458T/A—likely benign
rs75435354415:55,613,463G/A—likely benign
rs77939678815:55,613,470A/G—uncertain significance
rs97906759115:55,613,474T/G—pathogenic
rs205515711615:55,613,475G/A—uncertain significance
rs205515736015:55,613,489G/A—pathogenic
rs74547865015:55,613,493T/C—uncertain significance
rs77987388215:55,613,505C/G—uncertain significance
rs76829675415:55,613,516C/T—likely benign
rs205515792715:55,613,517A/G—uncertain significance
rs120683658315:55,613,540C/T—likely benign
rs36935336615:55,613,541A/T—uncertain significance
rs254306174715:55,613,559C/T—uncertain significance
rs76944460415:55,613,562T/C—likely benign
rs92390709115:55,613,563T/G—pathogenic
rs37306482515:55,613,576T/C—likely benign
rs146179713315:55,613,594T/C—uncertain significance
rs20042098115:55,613,602A/G—likely benign
rs37602062815:55,619,716T/A—uncertain significance
rs37027821015:55,619,724T/C—likely benign
rs37498953315:55,619,725G/A—likely benign
rs139722469915:55,619,732T/C—uncertain significance
rs77760570315:55,619,752A/G—likely benign
rs120626658015:55,619,759C/A—uncertain significance
rs3520124515:55,619,764T/C—benign
rs254308281915:55,619,767T/A—likely benign
rs37215800115:55,619,774G/C—likely pathogenic
rs229034415:55,619,796T/C—benign
rs205532206115:55,619,798A/G—uncertain significance
rs77682157415:55,619,799A/G—uncertain significance
rs57245123915:55,619,808A/G—likely benign
rs75089756915:55,619,813C/T—pathogenic
rs125328892415:55,619,816G/A—uncertain significance
rs76339913715:55,619,834G/T—conflicting classifications of pathogenicity
rs254308319315:55,619,848C/T—likely benign
rs205532343615:55,619,849T/C—likely benign
rs11239415115:55,619,851T/C—likely benign
rs2845966115:55,621,889T/C—benign
rs89441692515:55,621,907T/C—likely benign
rs37004092615:55,621,908G/A—likely benign
rs254308899215:55,621,914T/C—likely benign
rs76359572915:55,621,916T/C—likely benign
rs254308902315:55,621,920A/G—likely pathogenic
rs127886660015:55,621,930C/T—likely benign
rs76682880015:55,621,933G/T—uncertain significance
rs37129351215:55,621,934T/C—likely benign
rs76470982615:55,621,936G/A—likely benign

Showing 100 of 283 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.