COA8

cytochrome c oxidase assembly factor 8

Summary

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Known Variants125 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14508309614:104,029,123C/A—benign
rs56322887414:104,029,142G/A—likely benign
rs227426914:104,029,246G/A—benign
rs18567516014:104,029,289G/T—benign
rs207609593714:104,029,305G/A—likely benign
rs37407074814:104,029,307C/G—uncertain significance
rs250744955414:104,029,311C/T—likely benign
rs77917577414:104,029,313C/A—uncertain significance
rs89034250514:104,029,323C/T—likely benign
rs54747148514:104,029,328G/A—uncertain significance
rs122238825314:104,029,330C/T—uncertain significance
rs131394652114:104,029,332T/G—likely benign
rs74752166014:104,029,339A/G—uncertain significance
rs77152192814:104,029,340T/C—uncertain significance
rs6173376214:104,029,346T/C—benign
rs76483513414:104,029,351C/A—likely benign
rs139882677614:104,029,358G/A—uncertain significance
rs19092087314:104,029,361A/G—benign
rs75297662114:104,029,370T/G—uncertain significance
rs77831054314:104,029,374C/T—conflicting classifications of pathogenicity
rs227426814:104,029,378C/T—uncertain significance
rs7491740314:104,029,379C/A—uncertain significance
rs77415524014:104,029,387C/T—uncertain significance
rs116213663314:104,029,388G/T—uncertain significance
rs145084695414:104,029,392C/T—likely benign
rs75267943414:104,029,405G/T—uncertain significance
rs138180214814:104,029,407C/A—likely benign
rs37262680514:104,029,413A/G—likely benign
rs104705217114:104,029,418C/T—uncertain significance
rs126884778914:104,029,419T/C—likely benign
rs53538240114:104,029,423G/A—conflicting classifications of pathogenicity
rs75200880814:104,029,429G/C—uncertain significance
rs214226827214:104,029,433C/G—uncertain significance
rs115785566514:104,029,434C/G—likely benign
rs54917017314:104,029,435G/A—uncertain significance
rs74640372714:104,029,438C/G—uncertain significance
rs53404858114:104,029,439G/T—uncertain significance
rs20040708114:104,029,442G/A—benign
rs76834731314:104,029,444G/T—uncertain significance
rs227426714:104,029,449G/A—benign
rs18766058714:104,029,450G/A—uncertain significance
rs144343572114:104,029,455C/T—likely benign
rs76069771414:104,029,461G/A—uncertain significance
rs227426614:104,029,467C/T—conflicting classifications of pathogenicity
rs75182102014:104,029,471G/A—likely benign
rs76793323214:104,029,473C/T—likely benign
rs11475155214:104,029,521G/A—likely benign
rs714956614:104,037,869G/A—benign
rs37299303214:104,037,940T/C—likely benign
rs58777778514:104,037,959G/A—pathogenic
rs14392503314:104,037,965A/C—likely benign
rs159513921614:104,037,987T/A—uncertain significance
rs13879124714:104,037,999T/C—uncertain significance
rs97888073114:104,038,003T/A—uncertain significance
rs77459975914:104,038,008C/A—uncertain significance
rs20080127214:104,038,028C/T—conflicting classifications of pathogenicity
rs58777778414:104,038,032C/Gmissense variantpathogenic
rs75187649014:104,038,033G/A—uncertain significance
rs75686940214:104,038,052A/C—likely benign
rs127364458114:104,038,053C/G—uncertain significance
rs134318532214:104,038,056G/A—uncertain significance
rs3596083014:104,038,060A/G—likely benign
rs74832746314:104,038,099A/G—uncertain significance
rs77702915014:104,038,124G/A—likely benign
rs58777778614:104,038,150T/Cmissense variantpathogenic
rs250747858714:104,038,159T/A—likely pathogenic
rs11133284514:104,038,199T/C—likely benign
rs14856313614:104,038,325G/A—likely benign
rs2874451714:104,038,418T/G—benign
rs490633714:104,040,414C/A—benign
rs133200666514:104,040,437T/G—likely benign
rs75491852214:104,040,445A/G—uncertain significance
rs77887458714:104,040,450G/T—likely pathogenic
rs7141786714:104,040,473G/A—likely benign
rs76996649514:104,040,474A/T—likely pathogenic
rs77574226014:104,040,478C/G—uncertain significance
rs141483930114:104,040,484G/T—uncertain significance
rs20138950614:104,040,504T/A—uncertain significance
rs20088678414:104,040,518T/G—likely benign
rs127477724914:104,040,525A/T—likely benign
rs13943632914:104,040,559T/A—likely benign
rs7336134514:104,040,632A/G—benign
rs11658563114:104,040,978A/C—likely benign
rs1288773414:104,046,834G/Tupstream gene variant—
rs1014924914:104,047,757C/T—benign
rs55053791014:104,047,919T/G—likely benign
rs1015197414:104,048,078G/A—likely benign
rs11489338714:104,053,408A/G—likely benign
rs76648802814:104,053,595T/G—likely benign
rs105752221714:104,053,599A/G—likely benign
rs75382436914:104,053,613C/G—likely pathogenic
rs14511962614:104,053,629A/G—uncertain significance
rs75881889214:104,053,634G/C—uncertain significance
rs77822267514:104,053,639A/C—uncertain significance
rs250751845114:104,053,641T/C—uncertain significance
rs74755652914:104,053,644C/T—uncertain significance
rs74534930814:104,053,648C/T—likely benign
rs56247281014:104,053,658G/A—uncertain significance
rs36831704214:104,053,670A/C—uncertain significance
rs105278531914:104,053,695A/G—uncertain significance

Showing 100 of 125 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.