COQ8A

coenzyme Q8A

Summary

This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

Known Variants601 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1165945771:227,086,104T/C—likely benign
rs1886846841:227,086,354G/A—likely benign
rs780253371:227,126,886G/C——
rs5577864451:227,127,973C/A—uncertain significance
rs8860460631:227,127,997A/G—uncertain significance
rs8860460641:227,128,035C/T—uncertain significance
rs1456886191:227,128,108T/C—likely benign
rs1114083471:227,139,022G/Aintron variant—
rs346534941:227,142,699A/Gdownstream gene variant—
rs3724874791:227,149,096A/G—uncertain significance
rs2020754181:227,149,097T/A—uncertain significance
rs5642510191:227,149,099T/C—likely benign
rs5296091841:227,149,111A/G—conflicting classifications of pathogenicity
rs1502216081:227,149,136A/G—uncertain significance
rs21480516941:227,149,140G/T—likely benign
rs7745219661:227,149,142C/T—likely benign
rs7696508231:227,149,143C/T—likely benign
rs1421845841:227,149,148C/T—conflicting classifications of pathogenicity
rs115497091:227,149,149A/G—conflicting classifications of pathogenicity
rs355823081:227,149,153G/A—conflicting classifications of pathogenicity
rs7787700851:227,149,154T/C—uncertain significance
rs5755670611:227,149,155G/A—likely benign
rs1505410571:227,149,164C/T—benign
rs25282313251:227,149,173C/G—uncertain significance
rs1999190571:227,149,182C/T—likely benign
rs5527848421:227,149,183G/A—uncertain significance
rs21480518541:227,149,185A/C—likely benign
rs7734893581:227,149,202C/T—uncertain significance
rs115497081:227,149,203G/A—benign
rs1871235161:227,149,223C/T—uncertain significance
rs3729352461:227,149,231G/A—uncertain significance
rs21480520801:227,149,236G/T—uncertain significance
rs25282319381:227,149,242C/T—uncertain significance
rs7467203741:227,149,255A/G—uncertain significance
rs15720405051:227,149,261C/T—pathogenic
rs16582572731:227,149,269G/T—uncertain significance
rs11755602221:227,149,275T/C—likely benign
rs121334281:227,152,392C/T—benign
rs1454736581:227,152,602G/A—likely benign
rs7513339211:227,152,684G/A—likely benign
rs2004491671:227,152,693C/T—likely benign
rs25282489291:227,152,698C/T—uncertain significance
rs5324582701:227,152,699A/G—likely pathogenic
rs3692520711:227,152,701G/A—uncertain significance
rs15720457231:227,152,715T/C—likely benign
rs7796019421:227,152,734A/T—uncertain significance
rs3772015591:227,152,742C/T—likely benign
rs7789486971:227,152,743G/A—uncertain significance
rs10268707671:227,152,748A/C—likely benign
rs25282493061:227,152,750A/G—uncertain significance
rs7713027371:227,152,757G/C—uncertain significance
rs762494901:227,152,761C/T—likely benign
rs1136671441:227,152,763C/T—likely benign
rs13785530451:227,152,774C/T—uncertain significance
rs7756572611:227,152,775G/A—likely benign
rs22974111:227,152,778T/G—likely benign
rs1378727111:227,152,781A/C—conflicting classifications of pathogenicity
rs1385725391:227,152,782G/A—likely benign
rs16584783541:227,152,783C/T—uncertain significance
rs7500980451:227,152,785G/A—uncertain significance
rs1416872051:227,152,786G/T—uncertain significance
rs7533058061:227,152,802C/T—likely benign
rs13442407281:227,152,804C/T—uncertain significance
rs1115292281:227,152,814C/T—conflicting classifications of pathogenicity
rs2000003741:227,152,815G/A—uncertain significance
rs5430844031:227,152,820C/T—conflicting classifications of pathogenicity
rs1506969591:227,152,821G/A—uncertain significance
rs7757472271:227,152,831C/T—uncertain significance
rs12682683861:227,152,832G/A—likely benign
rs25282500901:227,152,835C/A—likely benign
rs7510422441:227,152,837C/A—uncertain significance
rs5569000941:227,152,842C/G—uncertain significance
rs5766137851:227,152,845G/C—conflicting classifications of pathogenicity
rs25282502591:227,152,853C/T—likely benign
rs1478896851:227,152,858G/A—uncertain significance
rs7659666791:227,152,860G/T—likely pathogenic
rs13286987951:227,152,864G/A—uncertain significance
rs7465771411:227,152,867C/G—uncertain significance
rs13819845841:227,152,878T/C—uncertain significance
rs7545215691:227,152,880C/T—likely benign
rs3763474051:227,152,881G/A—conflicting classifications of pathogenicity
rs1399705071:227,152,907C/T—likely benign
rs3729532501:227,152,908G/A—conflicting classifications of pathogenicity
rs7804755571:227,152,910G/C—likely benign
rs21480622361:227,152,915C/T—uncertain significance
rs3706598201:227,152,916C/T—likely benign
rs7745120291:227,152,917G/A—uncertain significance
rs15532769661:227,152,920C/T—likely pathogenic
rs15532769751:227,152,924C/T—uncertain significance
rs14264700321:227,152,938G/T—uncertain significance
rs7729048081:227,152,949C/T—likely benign
rs7605664191:227,152,950G/A—uncertain significance
rs25282511831:227,152,953A/C—likely benign
rs25282512051:227,152,958C/T—likely benign
rs8632238821:227,152,968C/T—likely benign
rs8667649881:227,152,969C/T—uncertain significance
rs1478124541:227,152,990T/C—uncertain significance
rs9132856701:227,152,994C/G—likely benign
rs7565898201:227,153,001C/T—pathogenic
rs7551818241:227,153,016C/G—uncertain significance

Showing 100 of 601 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.