QRSL1

glutaminyl-tRNA amidotransferase subunit QRSL1

Summary

Contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 40. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants113 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37477916:107,077,408C/T—benign
rs20543656:107,077,502G/A—benign
rs37477926:107,077,550G/A—benign
rs7812330246:107,077,566C/T—uncertain significance
rs3730317726:107,077,572C/T—uncertain significance
rs1426924846:107,077,577A/C—likely benign
rs3762274846:107,077,578G/C—uncertain significance
rs1116096776:107,077,597C/T—benign
rs5706690536:107,077,600T/A—likely benign
rs360168986:107,088,231C/T—benign
rs1171671906:107,088,232G/A—likely benign
rs3687302406:107,088,245G/A—uncertain significance
rs7660195406:107,088,274A/G—likely benign
rs7586163886:107,088,340G/A—likely benign
rs11719315066:107,088,372G/T—uncertain significance
rs17770009926:107,088,376T/C—likely benign
rs7465092276:107,088,380A/G—uncertain significance
rs23060986:107,088,585T/A—benign
rs3675553596:107,088,736G/A—uncertain significance
rs2001642816:107,088,737T/C—uncertain significance
rs569741356:107,088,768G/A—benign
rs7717240476:107,088,799A/G—uncertain significance
rs7453786036:107,090,858A/T—likely benign
rs5406411256:107,090,869G/A—uncertain significance
rs5604820096:107,090,905A/C—uncertain significance
rs24824968256:107,090,924T/C—likely benign
rs17770474466:107,090,935G/A—pathogenic
rs21147045826:107,090,940A/G—uncertain significance
rs12099650786:107,090,948A/G—likely benign
rs94864346:107,096,853A/C—benign
rs1131973596:107,096,884T/A—likely benign
rs7607806076:107,096,891C/T—likely benign
rs3677668036:107,096,892G/A—benign
rs15621687686:107,096,917G/T—pathogenic
rs8916063626:107,096,994G/A—uncertain significance
rs7511112586:107,097,002A/G—likely benign
rs798957406:107,097,059G/A—benign
rs7655454786:107,097,063T/C—uncertain significance
rs7634433316:107,097,074C/A—pathogenic
rs7681842466:107,100,111G/A—likely benign
rs2010775096:107,100,175C/T—uncertain significance
rs7610983656:107,100,203C/T—uncertain significance
rs1129657046:107,100,204G/A—benign
rs1445552706:107,100,212T/G—likely benign
rs1441919526:107,100,220A/G—benign
rs2015924566:107,100,353G/A—uncertain significance
rs7613794616:107,100,364C/T—likely benign
rs1487340466:107,100,369A/T—uncertain significance
rs1423615306:107,100,385T/C—likely benign
rs342219176:107,100,396A/G—benign
rs1466301036:107,100,397T/C—benign
rs7460183256:107,100,406C/A—uncertain significance
rs7623222566:107,100,437C/G—uncertain significance
rs1444538856:107,100,438T/G—uncertain significance
rs24825162116:107,100,452C/G—uncertain significance
rs69251696:107,100,483C/T—benign
rs1827153086:107,100,529A/C—likely benign
rs2016144466:107,102,600A/G—conflicting classifications of pathogenicity
rs9472044556:107,102,602A/G—pathogenic
rs12163880096:107,102,614G/A—conflicting classifications of pathogenicity
rs1390971796:107,102,618C/T—likely benign
rs7516672436:107,102,619G/A—likely benign
rs15824177116:107,102,635G/C—uncertain significance
rs1379299856:107,102,651C/T—uncertain significance
rs24825209126:107,102,689G/A—uncertain significance
rs3756652326:107,102,743T/C—likely benign
rs24825211096:107,102,749A/G—uncertain significance
rs1430850166:107,102,766G/A—uncertain significance
rs24825212106:107,102,780T/C—uncertain significance
rs69113216:107,103,479C/T—benign
rs15621709636:107,103,490G/A—uncertain significance
rs1482315786:107,103,496G/A—likely benign
rs7542498226:107,103,505T/C—uncertain significance
rs24825227096:107,103,509T/C—likely benign
rs1180297156:107,103,510T/G—benign
rs7579239356:107,103,525A/G—uncertain significance
rs1431513406:107,103,537A/G—conflicting classifications of pathogenicity
rs1384712236:107,103,539C/T—likely benign
rs729465346:107,103,544G/A—conflicting classifications of pathogenicity
rs9184455666:107,103,579C/T—uncertain significance
rs3755299686:107,103,615A/G—uncertain significance
rs1466405966:107,103,621T/G—benign
rs1506072766:107,110,855A/C—likely benign
rs24825376846:107,110,866A/G—uncertain significance
rs3760188616:107,110,895C/A—uncertain significance
rs7778583436:107,110,898C/G—uncertain significance
rs5280857726:107,110,906T/C—benign
rs7655964796:107,110,915T/C—likely benign
rs7493162106:107,110,931T/C—uncertain significance
rs7775793696:107,110,980C/G—uncertain significance
rs1400288286:107,110,988G/A—likely benign
rs7470786586:107,110,997A/G—uncertain significance
rs12827026236:107,111,045G/T—uncertain significance
rs13130361306:107,111,046C/A—uncertain significance
rs7634755266:107,111,054A/G—uncertain significance
rs726132416:107,111,084T/G—benign
rs10266216:107,113,403T/G—benign
rs31214486:107,113,509A/G—benign
rs170676086:107,113,618G/A—benign
rs12356828516:107,113,708T/C—uncertain significance

Showing 100 of 113 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.