PGM1

phosphoglucomutase 1

Summary

The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]

Known Variants392 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5513108041:64,059,111C/G—likely benign
rs2018059401:64,059,119G/A—likely benign
rs3700352901:64,059,121C/G—uncertain significance
rs16479254581:64,059,164T/G—uncertain significance
rs7758626191:64,059,171C/A—likely benign
rs1112467491:64,059,177A/G—likely benign
rs21009475841:64,059,182A/G—uncertain significance
rs11978592561:64,059,183G/T—uncertain significance
rs3712750431:64,059,197A/C—conflicting classifications of pathogenicity
rs25237886171:64,059,201C/T—likely benign
rs11732806741:64,059,207G/A—likely benign
rs5780377341:64,059,210G/C—likely benign
rs16479280331:64,059,215C/G—uncertain significance
rs7641008191:64,059,216G/A—likely benign
rs12517660211:64,059,219C/T—likely benign
rs13957711601:64,059,223C/T—likely benign
rs15704638211:64,059,233G/A—uncertain significance
rs13008630851:64,059,235G/A—uncertain significance
rs9596948701:64,059,249G/A—likely benign
rs21009476981:64,059,250A/G—uncertain significance
rs7796354421:64,059,256G/C—uncertain significance
rs3733945381:64,059,258C/T—likely benign
rs15576990261:64,059,264C/T—likely benign
rs1464776401:64,059,266C/A—uncertain significance
rs7486079571:64,059,267G/A—likely benign
rs5877774021:64,059,271A/Tmissense variantpathogenic
rs7607338101:64,059,278T/C—uncertain significance
rs13725953821:64,059,279C/G—uncertain significance
rs13006517701:64,059,281A/G—uncertain significance
rs7770422561:64,059,282G/A—likely benign
rs3742072691:64,059,284G/A—uncertain significance
rs7514199181:64,059,288C/T—likely benign
rs12893279031:64,059,289A/G—uncertain significance
rs14770938471:64,059,293C/T—uncertain significance
rs7673570221:64,059,297C/A—likely benign
rs14032338411:64,059,302A/G—uncertain significance
rs25237890911:64,059,311A/G—uncertain significance
rs3771791341:64,059,314G/A—uncertain significance
rs7546504121:64,059,315G/C—likely benign
rs7791927761:64,059,317A/G—uncertain significance
rs3700875431:64,059,318G/A—likely benign
rs7726289321:64,059,319G/A—uncertain significance
rs25237891971:64,059,327G/C—likely benign
rs11626288321:64,059,329T/C—uncertain significance
rs13905894181:64,059,330G/A—likely benign
rs12879635131:64,059,337G/C—uncertain significance
rs2013545761:64,059,339C/T—likely benign
rs5877774031:64,059,343G/Cmissense variantpathogenic
rs7597822581:64,059,346G/T—uncertain significance
rs12717732431:64,059,350G/A—uncertain significance
rs5612360411:64,059,358A/G—uncertain significance
rs15531768231:64,059,359T/G—uncertain significance
rs2003909821:64,059,362A/T—conflicting classifications of pathogenicity
rs7533635431:64,059,368C/T—uncertain significance
rs12800370541:64,059,375G/C—uncertain significance
rs1895116191:64,059,402C/T—likely benign
rs1999283761:64,059,403G/T—uncertain significance
rs8998295801:64,059,405G/A—uncertain significance
rs9602638881:64,059,413A/G—likely benign
rs16479426031:64,059,416C/T—likely benign
rs115842761:64,059,472T/C—benign
rs1162292931:64,059,493C/T—likely benign
rs1820252001:64,059,602C/T—likely benign
rs2174901:64,059,644C/G—benign
rs1858074321:64,059,717C/T—likely benign
rs1138488861:64,059,725G/C—likely benign
rs610039601:64,059,863T/A—benign
rs1132406911:64,059,920T/C—benign
rs729208591:64,088,651A/G—benign
rs1158388781:64,088,660G/A—benign
rs790171981:64,088,696T/A—likely benign
rs729208601:64,089,009T/G—benign
rs7590145261:64,089,167T/C—likely benign
rs7551526521:64,089,224C/T—likely benign
rs1407386301:64,089,286G/A—uncertain significance
rs7669803001:64,089,295A/G—uncertain significance
rs2008811741:64,089,400A/T—conflicting classifications of pathogenicity
rs770431341:64,089,432G/A—likely benign
rs104896121:64,094,780G/A—benign
rs8553131:64,095,042T/G—benign
rs15704934711:64,095,089C/T—likely benign
rs16491278611:64,095,091C/T—uncertain significance
rs1400861161:64,095,098C/T—likely benign
rs1502868181:64,095,102C/T—uncertain significance
rs2002256861:64,095,103G/A—uncertain significance
rs16491290271:64,095,108G/A—uncertain significance
rs1475403361:64,095,110T/C—likely benign
rs8553141:64,095,111G/A—likely benign
rs2009469091:64,095,113C/T—likely benign
rs3775005361:64,095,114G/A—uncertain significance
rs11900254441:64,095,131C/G—likely benign
rs7774592811:64,095,143T/A—likely benign
rs21009818741:64,095,149C/G—likely benign
rs7815511651:64,095,167C/G—uncertain significance
rs13566479591:64,095,171G/A—uncertain significance
rs25238751541:64,095,175T/C—uncertain significance
rs7702716531:64,095,176T/C—conflicting classifications of pathogenicity
rs7760216651:64,095,185C/T—likely benign
rs1219183711:64,095,192A/Gmissense variantpathogenic
rs12130896491:64,095,205A/G—uncertain significance

Showing 100 of 392 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.