GATM

glycine amidinotransferase

Summary

This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]

Known Variants480 total

rsidPosition (GRCh37)AllelesClassClinVar
rs104951815:45,653,367G/A—benign
rs1761863715:45,653,394C/T—benign
rs114508715:45,653,460C/T—benign
rs90317358915:45,653,508A/G—uncertain significance
rs56462401115:45,653,515G/T—uncertain significance
rs93343779915:45,653,548G/A—uncertain significance
rs104950815:45,653,592A/G—benign
rs188936090715:45,653,594A/T—uncertain significance
rs75081773715:45,653,608T/G—benign
rs104950315:45,653,707T/C—benign
rs7556551215:45,653,712G/T—benign
rs188936431315:45,653,752T/C—uncertain significance
rs188936997615:45,654,035G/A—uncertain significance
rs14368921815:45,654,182C/T—likely benign
rs88605120115:45,654,203T/C—uncertain significance
rs77180653715:45,654,252G/T—uncertain significance
rs57099440915:45,654,279G/A—likely benign
rs20014372815:45,654,280G/C—benign
rs156683876815:45,654,310G/C—uncertain significance
rs214063575515:45,654,315A/G—likely benign
rs77488148915:45,654,322C/T—likely benign
rs159548144115:45,654,325T/C—likely benign
rs114508615:45,654,327A/G—benign
rs138352045515:45,654,331G/T—likely benign
rs105752246715:45,654,334T/G—likely benign
rs37459224715:45,654,335C/T—benign
rs135737447215:45,654,336G/A—uncertain significance
rs138305217315:45,654,338C/T—uncertain significance
rs55015998215:45,654,340C/G—likely benign
rs146165321815:45,654,341C/T—likely pathogenic
rs124482480615:45,654,342G/A—likely pathogenic
rs254198109015:45,654,345C/T—uncertain significance
rs76817175915:45,654,348C/T—uncertain significance
rs76757542815:45,654,349G/A—likely benign
rs155538390215:45,654,352G/A—likely benign
rs254198112915:45,654,361A/G—likely benign
rs156683881715:45,654,367G/T—likely benign
rs254198117115:45,654,378G/A—likely benign
rs254198117615:45,654,379G/A—likely benign
rs122558001615:45,654,382A/G—likely benign
rs56696637815:45,654,383T/C—uncertain significance
rs214063595615:45,654,385G/A—likely benign
rs214063596415:45,654,389T/C—uncertain significance
rs135752873915:45,654,392C/T—uncertain significance
rs118353533215:45,654,393G/T—uncertain significance
rs254198122815:45,654,396T/C—uncertain significance
rs36873704415:45,654,409G/C—likely benign
rs145082792015:45,654,413G/A—uncertain significance
rs117065032815:45,654,417T/C—uncertain significance
rs75760836915:45,654,419C/T—uncertain significance
rs214063605515:45,654,433G/A—likely benign
rs254198134715:45,654,436A/G—likely benign
rs53573631115:45,654,437T/A—likely benign
rs375989915:45,655,903T/C—benign
rs18797908815:45,656,079T/C—likely benign
rs254198387115:45,656,081T/A—conflicting classifications of pathogenicity
rs36897419615:45,656,084T/C—uncertain significance
rs37294518815:45,656,088T/C—likely benign
rs214063853315:45,656,089T/G—likely benign
rs88605120215:45,656,098C/G—uncertain significance
rs79605253615:45,656,106T/C—uncertain significance
rs254198394715:45,656,108A/G—likely benign
rs138068243015:45,656,113T/A—uncertain significance
rs128547035915:45,656,114C/T—likely benign
rs75886194715:45,656,133T/C—uncertain significance
rs188940595815:45,656,139T/C—uncertain significance
rs78052367915:45,656,141C/T—likely benign
rs127082436015:45,656,147A/G—likely benign
rs188940641115:45,656,149C/T—uncertain significance
rs74755723915:45,656,151C/T—uncertain significance
rs76811819415:45,656,152G/A—uncertain significance
rs75396887615:45,656,169A/G—uncertain significance
rs147996952115:45,656,172A/G—uncertain significance
rs254198415915:45,656,173C/G—uncertain significance
rs214063867915:45,656,175T/A—uncertain significance
rs254198417915:45,656,178A/G—uncertain significance
rs188940698115:45,656,190T/C—uncertain significance
rs214063870015:45,656,204G/C—likely benign
rs254198426615:45,656,215C/G—likely pathogenic
rs77298556315:45,656,217A/G—likely benign
rs188940735715:45,656,218A/C—likely benign
rs134464481115:45,656,224G/A—likely benign
rs254198429115:45,656,226A/G—likely benign
rs130516809215:45,656,227A/C—likely benign
rs134643558015:45,656,229A/G—likely benign
rs76264320515:45,656,231C/G—likely benign
rs128170837215:45,656,233G/A—likely benign
rs5736969315:45,656,468T/C—benign
rs248627515:45,656,746A/C—likely benign
rs76676460715:45,656,983A/T—likely benign
rs254198611315:45,656,990C/T—uncertain significance
rs119162457415:45,656,991A/G—uncertain significance
rs75201630915:45,656,992T/C—likely benign
rs75549353715:45,656,995C/T—uncertain significance
rs13959930715:45,656,996G/C—uncertain significance
rs14281430715:45,657,000G/A—uncertain significance
rs254198614715:45,657,005G/A—likely benign
rs74760869815:45,657,007T/C—benign
rs188942266115:45,657,015G/A—uncertain significance
rs254198617915:45,657,020A/G—likely benign

Showing 100 of 480 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.