TSEN54

tRNA splicing endonuclease subunit 54

Summary

This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]

Known Variants503 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6208846117:73,512,305A/G—benign
rs6208846217:73,512,354A/C—benign
rs7285194117:73,512,363C/T—benign
rs7336223317:73,512,386C/T—benign
rs205336772217:73,512,643T/C—likely pathogenic
rs79472696517:73,512,647G/C—uncertain significance
rs142580631417:73,512,648C/T—conflicting classifications of pathogenicity
rs140312233017:73,512,650C/G—likely benign
rs721667317:73,512,653G/A—likely benign
rs88605339417:73,512,654C/T—uncertain significance
rs147105171917:73,512,656C/G—likely benign
rs137797128617:73,512,657G/T—pathogenic
rs122632080517:73,512,659G/T—conflicting classifications of pathogenicity
rs205336837917:73,512,661C/T—uncertain significance
rs159847309817:73,512,662C/G—likely benign
rs121780825317:73,512,666G/A—uncertain significance
rs254615039817:73,512,671G/A—likely benign
rs149047571317:73,512,678C/T—uncertain significance
rs205336862517:73,512,680C/G—likely benign
rs205336864617:73,512,681G/A—uncertain significance
rs129383465517:73,512,686G/A—likely benign
rs121969875017:73,512,689C/T—likely benign
rs205336879217:73,512,692G/A—likely benign
rs93716475317:73,512,699T/A—likely pathogenic
rs205336895617:73,512,704C/G—likely benign
rs86695212617:73,512,705G/A—likely benign
rs205336905217:73,512,708G/A—likely benign
rs254615047517:73,512,710C/G—likely benign
rs254615048117:73,512,711C/G—likely benign
rs99096103717:73,512,716G/A—likely benign
rs120848900717:73,512,807C/T—likely benign
rs75013524517:73,512,809C/T—likely benign
rs136451347117:73,512,810G/C—likely benign
rs254615072617:73,512,812C/T—likely benign
rs159847333517:73,512,815C/T—likely benign
rs205337159117:73,512,816T/C—likely benign
rs254615075217:73,512,821C/T—likely benign
rs254615075717:73,512,825A/C—likely pathogenic
rs74690163917:73,512,831C/T—uncertain significance
rs147594621317:73,512,842C/T—likely benign
rs20108958217:73,512,853C/T—conflicting classifications of pathogenicity
rs254615083017:73,512,863G/A—likely benign
rs205337243417:73,512,867C/T—likely benign
rs77568702217:73,512,878C/T—likely benign
rs86659071317:73,512,880C/G—uncertain significance
rs807937317:73,512,884T/G—benign
rs254615090317:73,512,893G/A—likely benign
rs77692315117:73,512,896C/T—likely benign
rs76215267917:73,512,902G/C—likely benign
rs75004900117:73,512,905C/T—likely benign
rs119863295517:73,512,908C/T—likely benign
rs147932007217:73,512,913C/T—uncertain significance
rs76576125317:73,512,914G/C—likely benign
rs75111634617:73,512,915G/A—likely benign
rs74815117117:73,512,921C/G—uncertain significance
rs75596706517:73,512,923G/C—uncertain significance
rs118065966317:73,512,928A/G—uncertain significance
rs144309412417:73,512,929G/A—likely benign
rs98214804117:73,512,932G/A—likely benign
rs137617904317:73,512,933C/T—likely benign
rs205337369117:73,512,935G/T—likely benign
rs123808526817:73,512,936C/T—uncertain significance
rs128144855717:73,512,937G/A—uncertain significance
rs254615102117:73,512,944C/T—likely benign
rs121479636117:73,512,945C/G—uncertain significance
rs88604356317:73,512,946G/A—uncertain significance
rs143849379117:73,512,951G/A—uncertain significance
rs123997317917:73,512,954C/A—uncertain significance
rs205337411417:73,512,960C/T—pathogenic
rs76878306617:73,512,965G/A—uncertain significance
rs138822226217:73,512,967T/C—uncertain significance
rs132644116617:73,512,970C/T—uncertain significance
rs254615107617:73,512,977G/C—uncertain significance
rs124442535817:73,512,980C/T—likely benign
rs76234891417:73,512,981G/A—uncertain significance
rs134986595317:73,512,985A/C—uncertain significance
rs214700585417:73,512,992G/A—uncertain significance
rs214700585617:73,512,994G/T—pathogenic
rs214700587417:73,512,998G/A—likely benign
rs159847355717:73,513,001G/C—likely benign
rs130365092717:73,513,002C/A—likely benign
rs77365069017:73,513,005G/C—likely benign
rs55604181317:73,513,008C/T—likely benign
rs214700593017:73,513,009A/G—likely benign
rs36893330317:73,513,050C/G—likely benign
rs159847365917:73,513,070C/G—likely benign
rs11325533317:73,513,072C/T—benign
rs101281254117:73,513,075C/T—likely benign
rs137748325317:73,513,077C/G—likely benign
rs254615136017:73,513,081C/G—likely benign
rs205337659217:73,513,082C/G—likely benign
rs155564372517:73,513,083T/A—uncertain significance
rs53314794917:73,513,085G/T—likely benign
rs97691713217:73,513,093C/T—likely benign
rs131485038717:73,513,099G/A—likely benign
rs214700629617:73,513,117G/A—likely pathogenic
rs145477189017:73,513,136G/A—uncertain significance
rs76409654817:73,513,138G/A—likely benign
rs128986766817:73,513,146C/T—uncertain significance
rs138566065617:73,513,152C/T—uncertain significance

Showing 100 of 503 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.