G6PD

glucose-6-phosphate dehydrogenase

Pharmacogene

Summary

This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants599 total

rsidPosition (GRCh37)AllelesClassClinVar
rs782728373X:153,746,517C/T—likely benign
rs1050828X:153,759,462C/Tmissense variantpathogenic
rs921086000X:153,759,616G/A—uncertain significance
rs181015082X:153,759,667G/A—uncertain significance
rs1057515820X:153,759,680C/A—uncertain significance
rs782764609X:153,759,695C/T—conflicting classifications of pathogenicity
rs1239325414X:153,759,749G/C—uncertain significance
rs1034742794X:153,759,850C/T—conflicting classifications of pathogenicity
rs1050757X:153,759,858T/Cregulatory region variantuncertain significance
rs111485003X:153,759,911A/G—likely benign
rs975719422X:153,759,934G/A—uncertain significance
rs112950723X:153,759,943C/T—likely benign
rs938857639X:153,760,140G/A—uncertain significance
rs201294737X:153,760,165C/T—uncertain significance
rs398123543X:153,760,168C/T—uncertain significance
rs781866772X:153,760,190G/A—uncertain significance
rs2523260398X:153,760,218G/A—likely benign
rs2523260427X:153,760,226G/A—uncertain significance
rs2070342362X:153,760,227G/A—likely benign
rs375285369X:153,760,246G/C—uncertain significance
rs1447713922X:153,760,257C/T—likely benign
rs2523260532X:153,760,261A/C—no classification for the single variant
rs2523260539X:153,760,267A/T—uncertain significance
rs782422580X:153,760,270C/G—uncertain significance
rs1215138210X:153,760,272C/T—likely benign
rs1353587380X:153,760,276A/C—uncertain significance
rs781923155X:153,760,278C/T—likely benign
rs1230419397X:153,760,281C/T—likely benign
rs1377337822X:153,760,283C/T—uncertain significance
rs782206043X:153,760,293C/T—likely benign
rs2148328181X:153,760,296G/T—likely benign
rs2523260637X:153,760,297G/A—conflicting classifications of pathogenicity
rs1603411177X:153,760,298G/A—pathogenic
rs1557229428X:153,760,299G/A—likely benign
rs2523260651X:153,760,300C/A—pathogenic
rs1299474760X:153,760,312A/T—likely benign
rs369024848X:153,760,317C/T—likely benign
rs371772243X:153,760,318G/C—conflicting classifications of pathogenicity
rs398123548X:153,760,369T/C—uncertain significance
rs373239864X:153,760,372G/C—likely benign
rs1557229460X:153,760,384G/A—likely benign
rs2523260965X:153,760,386C/T—likely benign
rs2523260987X:153,760,388C/T—likely benign
rs1557229462X:153,760,389C/A—likely benign
rs914636991X:153,760,391C/T—likely benign
rs1320350685X:153,760,392C/A—likely benign
rs2148328331X:153,760,393C/T—likely benign
rs2523261023X:153,760,394T/A—likely benign
rs782797399X:153,760,408A/G—likely benign
rs781909508X:153,760,414A/G—likely benign
rs377659103X:153,760,417G/A—likely benign
rs137852348X:153,760,418G/Amissense variantpathogenic
rs202122673X:153,760,419G/C—conflicting classifications of pathogenicity
rs781829860X:153,760,423G/A—likely benign
rs77214077X:153,760,429G/A—likely benign
rs2148328378X:153,760,438C/T—uncertain significance
rs2148328385X:153,760,440G/C—uncertain significance
rs2070346041X:153,760,448T/G—uncertain significance
rs369482861X:153,760,455G/A—likely benign
rs782546971X:153,760,458G/A—likely benign
rs137852344X:153,760,460G/Cmissense variantpathogenic
rs398123547X:153,760,462G/A—conflicting classifications of pathogenicity
rs1603411210X:153,760,464T/C—uncertain significance
rs72554664X:153,760,472C/Tmissense variantpathogenic
rs1557229502X:153,760,473G/Amissense variantpathogenic
rs2523261277X:153,760,480C/G—likely pathogenic
rs1603411214X:153,760,482C/A—pathogenic
rs72554665X:153,760,484C/Amissense variantpathogenic
rs2070346788X:153,760,485G/A—likely pathogenic
rs2523261317X:153,760,488G/A—likely pathogenic
rs2070346837X:153,760,489C/T—likely benign
rs782170250X:153,760,492G/A—likely benign
rs2523261336X:153,760,493T/A—likely pathogenic
rs782317415X:153,760,494C/T—likely pathogenic
rs2523261356X:153,760,495G/A—conflicting classifications of pathogenicity
rs886044905X:153,760,500G/A—conflicting classifications of pathogenicity
rs1168711308X:153,760,502G/A—likely benign
rs781942836X:153,760,503G/A—likely benign
rs2071429X:153,760,508A/G—likely benign
rs1193489886X:153,760,514G/A—likely benign
rs2070348615X:153,760,583C/T—likely benign
rs376605026X:153,760,584C/T—likely benign
rs782181868X:153,760,585G/A—likely benign
rs2148328536X:153,760,586G/A—likely benign
rs942190523X:153,760,591T/C—likely benign
rs137852324X:153,760,604C/Gmissense variantpathogenic
rs398123546X:153,760,605G/Amissense variantpathogenic
rs2523261737X:153,760,607A/T—likely pathogenic
rs370808115X:153,760,609G/A—likely benign
rs2523261771X:153,760,614G/A—likely pathogenic
rs1557229572X:153,760,618C/Gmissense variantpathogenic
rs2523261785X:153,760,619T/C—likely pathogenic
rs2148328562X:153,760,621G/A—likely benign
rs2523261790X:153,760,623T/C—likely pathogenic
rs2523261815X:153,760,625C/A—likely pathogenic
rs137852317X:153,760,626C/Tmissense variantpathogenic
rs1557229582X:153,760,627G/A—likely benign
rs782250606X:153,760,635C/T—conflicting classifications of pathogenicity
rs138919671X:153,760,636G/A—conflicting classifications of pathogenicity
rs2070349408X:153,760,639C/T—likely benign

Showing 100 of 599 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.