THOC6

THO complex subunit 6

Summary

This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]

Known Variants69 total

rsidPosition (GRCh37)AllelesClassClinVar
rs74707605416:3,074,338C/T—uncertain significance
rs74853750916:3,074,343C/T—uncertain significance
rs76373621616:3,074,356C/A—uncertain significance
rs37451843716:3,074,361G/A—uncertain significance
rs271766416:3,075,701C/T—benign
rs75514116116:3,075,715G/A—uncertain significance
rs11525057316:3,075,762C/T—likely benign
rs77253364316:3,075,804C/A—pathogenic
rs57801252816:3,075,808C/T—pathogenic
rs250646514816:3,075,825G/T—likely pathogenic
rs77543960816:3,075,958G/C—uncertain significance
rs20026893716:3,075,975T/C—uncertain significance
rs224500016:3,075,999C/G—benign
rs76070588116:3,076,078G/A—uncertain significance
rs14685372116:3,076,080C/T—likely benign
rs76546046216:3,076,098C/T—likely benign
rs76334437516:3,076,102C/T—pathogenic
rs13863212116:3,076,141T/A—conflicting classifications of pathogenicity
rs156741559516:3,076,142G/A—likely pathogenic
rs130208397916:3,076,167G/C—uncertain significance
rs36863454216:3,076,177C/T—likely benign
rs13845310416:3,076,256G/A—uncertain significance
rs14200717416:3,076,271G/A—likely benign
rs76111520516:3,076,360C/T—uncertain significance
rs3447208016:3,076,369C/T—likely benign
rs37090677616:3,076,382C/T—uncertain significance
rs159647751716:3,076,384T/G—likely benign
rs805726216:3,076,393C/T—benign
rs20139346716:3,076,405G/A—likely benign
rs75364200116:3,076,541G/A—uncertain significance
rs37455143416:3,076,550C/T—pathogenic
rs13870603816:3,076,587C/T—uncertain significance
rs37219771716:3,076,667C/T—uncertain significance
rs14938427216:3,076,690G/A—uncertain significance
rs93444302616:3,076,692G/A—uncertain significance
rs89553284316:3,076,706C/A—likely pathogenic
rs20187954016:3,076,710C/T—uncertain significance
rs37320544616:3,076,713T/C—uncertain significance
rs207280497716:3,076,733G/T—uncertain significance
rs133506337916:3,076,749T/C—likely pathogenic
rs19979538116:3,076,765G/A—pathogenic
rs119440871416:3,076,773C/T—pathogenic
rs75755961316:3,076,863C/T—likely benign
rs14743206516:3,076,890C/G—likely benign
rs156741684516:3,076,892A/C—pathogenic
rs14849494916:3,076,895C/T—uncertain significance
rs97385240716:3,076,907A/T—uncertain significance
rs11667597016:3,077,030A/C—likely benign
rs19318786216:3,077,031A/G—uncertain significance
rs15094092316:3,077,171G/C—conflicting classifications of pathogenicity
rs75267427016:3,077,210C/T—likely pathogenic
rs77777718516:3,077,217C/A—uncertain significance
rs155549882116:3,077,219A/C—uncertain significance
rs77252417116:3,077,243C/T—uncertain significance
rs37193754616:3,077,260C/T—likely benign
rs56391700716:3,077,270T/C—uncertain significance
rs207282184616:3,077,282G/A—pathogenic
rs250648287816:3,077,369T/C—likely benign
rs20042692616:3,077,380G/A—conflicting classifications of pathogenicity
rs207282582316:3,077,385G/C—uncertain significance
rs14668248616:3,077,393C/A—likely pathogenic
rs14066490816:3,077,414C/T—benign
rs37449948816:3,077,415G/A—uncertain significance
rs14444679316:3,077,421C/T—likely benign
rs53456484716:3,077,425A/G—uncertain significance
rs14922753516:3,077,486C/G—likely benign
rs14830438616:3,077,581C/T—likely benign
rs250648606116:3,077,600G/C—uncertain significance
rs56325957416:3,077,901C/T——

Gene information from NCBI Gene. Variant classifications from ClinVar.