GSS

glutathione synthetase

Summary

Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]

Known Variants345 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1730987220:33,515,788A/G——
rs88605663820:33,516,240T/A—uncertain significance
rs88605663920:33,516,241C/A—uncertain significance
rs101791280420:33,516,308C/T—uncertain significance
rs208137070820:33,516,446G/A—uncertain significance
rs144309282020:33,516,448G/A—uncertain significance
rs77368981220:33,516,450G/A—uncertain significance
rs3574768520:33,516,541T/C—likely benign
rs20088257320:33,516,562C/A—likely benign
rs3606600320:33,516,563C/A—uncertain significance
rs36975460020:33,516,600G/A—uncertain significance
rs76543453420:33,516,611C/G—conflicting classifications of pathogenicity
rs3600072720:33,516,629C/T—benign
rs36795333620:33,516,634C/A—likely benign
rs141970442620:33,516,649G/T—uncertain significance
rs76531116720:33,516,667C/T—likely benign
rs54954664020:33,516,668G/A—conflicting classifications of pathogenicity
rs77737726320:33,516,682A/G—likely benign
rs131137070520:33,516,683T/C—uncertain significance
rs91113433920:33,516,694G/A—likely benign
rs75682115520:33,516,703G/C—likely benign
rs251901468720:33,516,712T/A—likely benign
rs251901472520:33,516,716T/C—uncertain significance
rs77490475420:33,516,723C/T—uncertain significance
rs14187294620:33,516,724G/A—likely benign
rs20085119920:33,516,727C/T—likely benign
rs37114779020:33,516,738C/T—uncertain significance
rs76654636120:33,516,739G/A—likely benign
rs136791947120:33,516,740A/C—uncertain significance
rs251901486620:33,516,744T/C—uncertain significance
rs208137499020:33,516,745C/G—uncertain significance
rs251901491820:33,516,751C/T—likely benign
rs214711957020:33,516,755C/T—uncertain significance
rs37468223320:33,516,757A/G—likely benign
rs76398180020:33,516,765G/A—likely benign
rs75135180320:33,516,768G/C—likely benign
rs251901500020:33,516,769G/A—likely benign
rs208137555420:33,516,770C/T—likely benign
rs251901500820:33,516,772G/A—likely benign
rs812493320:33,517,011G/T—benign
rs180131020:33,517,014A/G—benign
rs251901645320:33,517,189T/C—likely benign
rs20021912020:33,517,190C/G—likely benign
rs11181620320:33,517,191C/T—likely benign
rs251901652120:33,517,199C/T—uncertain significance
rs208138087920:33,517,224G/A—likely benign
rs37439346720:33,517,229G/A—likely benign
rs251901662020:33,517,233T/C—likely benign
rs36965786120:33,517,245G/C—conflicting classifications of pathogenicity
rs15014179420:33,517,252C/T—conflicting classifications of pathogenicity
rs148604919120:33,517,253G/A—pathogenic
rs75150293720:33,517,258G/A—uncertain significance
rs208138132920:33,517,259G/T—uncertain significance
rs20140609020:33,517,266A/G—likely benign
rs251901675620:33,517,268G/A—uncertain significance
rs76723101720:33,517,271G/A—uncertain significance
rs208138165020:33,517,278G/T—pathogenic
rs144629127120:33,517,299T/C—likely benign
rs251901684120:33,517,300T/C—uncertain significance
rs13857494920:33,517,302G/A—conflicting classifications of pathogenicity
rs251901691720:33,517,317G/C—uncertain significance
rs77143855020:33,517,319T/C—uncertain significance
rs37208283820:33,517,323G/A—likely benign
rs208138236820:33,517,338A/G—likely benign
rs106479702920:33,517,346T/G—uncertain significance
rs14186630420:33,517,347C/T—conflicting classifications of pathogenicity
rs251901703920:33,517,349G/A—likely benign
rs77415884120:33,517,351T/C—uncertain significance
rs135652227020:33,517,368C/T—uncertain significance
rs251901711220:33,517,371T/C—likely benign
rs14626730020:33,517,379C/T—conflicting classifications of pathogenicity
rs55969942420:33,517,383T/C—likely benign
rs208138304120:33,517,384A/C—uncertain significance
rs132871837820:33,517,385G/A—likely benign
rs156900829020:33,517,387T/C—uncertain significance
rs148445735720:33,517,397C/T—likely benign
rs251901727220:33,517,411A/T—likely benign
rs119600926720:33,519,123A/G—likely benign
rs74811510620:33,519,125G/A—likely benign
rs102121506320:33,519,131C/A—likely benign
rs76051856720:33,519,155G/A—likely benign
rs251901956720:33,519,170C/T—likely benign
rs76468799820:33,519,172G/A—uncertain significance
rs75229586520:33,519,177G/C—uncertain significance
rs251901960320:33,519,185A/T—likely benign
rs13912078320:33,519,191C/T—likely benign
rs14234590220:33,519,194G/A—likely benign
rs14397406820:33,519,196C/T—conflicting classifications of pathogenicity
rs37382282820:33,519,197G/A—likely benign
rs103231032320:33,519,200G/A—likely benign
rs77212336720:33,519,203C/T—likely benign
rs208140066420:33,519,221C/G—likely pathogenic
rs251901969620:33,519,230G/A—likely benign
rs126445411920:33,519,232C/A—likely benign
rs208140084220:33,519,234G/A—likely benign
rs251901970620:33,519,235A/C—likely benign
rs251901970720:33,519,236A/C—likely benign
rs251901971520:33,519,239C/T—likely benign
rs14383883920:33,519,338A/G—likely benign
rs37024073420:33,519,728G/A—likely benign

Showing 100 of 345 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.