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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs116594577	1:227,086,104	T/C	—	likely benign
rs188684684	1:227,086,354	G/A	—	likely benign
rs78025337	1:227,126,886	G/C	—	—
rs557786445	1:227,127,973	C/A	—	uncertain significance
rs886046063	1:227,127,997	A/G	—	uncertain significance
rs886046064	1:227,128,035	C/T	—	uncertain significance
rs145688619	1:227,128,108	T/C	—	likely benign
rs111408347	1:227,139,022	G/A	intron variant	—
rs34653494	1:227,142,699	A/G	downstream gene variant	—
rs372487479	1:227,149,096	A/G	—	uncertain significance
rs202075418	1:227,149,097	T/A	—	uncertain significance
rs564251019	1:227,149,099	T/C	—	likely benign
rs529609184	1:227,149,111	A/G	—	conflicting classifications of pathogenicity
rs150221608	1:227,149,136	A/G	—	uncertain significance
rs2148051694	1:227,149,140	G/T	—	likely benign
rs774521966	1:227,149,142	C/T	—	likely benign
rs769650823	1:227,149,143	C/T	—	likely benign
rs142184584	1:227,149,148	C/T	—	conflicting classifications of pathogenicity
rs11549709	1:227,149,149	A/G	—	conflicting classifications of pathogenicity
rs35582308	1:227,149,153	G/A	—	conflicting classifications of pathogenicity
rs778770085	1:227,149,154	T/C	—	uncertain significance
rs575567061	1:227,149,155	G/A	—	likely benign
rs150541057	1:227,149,164	C/T	—	benign
rs2528231325	1:227,149,173	C/G	—	uncertain significance
rs199919057	1:227,149,182	C/T	—	likely benign
rs552784842	1:227,149,183	G/A	—	uncertain significance
rs2148051854	1:227,149,185	A/C	—	likely benign
rs773489358	1:227,149,202	C/T	—	uncertain significance
rs11549708	1:227,149,203	G/A	—	benign
rs187123516	1:227,149,223	C/T	—	uncertain significance
rs372935246	1:227,149,231	G/A	—	uncertain significance
rs2148052080	1:227,149,236	G/T	—	uncertain significance
rs2528231938	1:227,149,242	C/T	—	uncertain significance
rs746720374	1:227,149,255	A/G	—	uncertain significance
rs1572040505	1:227,149,261	C/T	—	pathogenic
rs1658257273	1:227,149,269	G/T	—	uncertain significance
rs1175560222	1:227,149,275	T/C	—	likely benign
rs12133428	1:227,152,392	C/T	—	benign
rs145473658	1:227,152,602	G/A	—	likely benign
rs751333921	1:227,152,684	G/A	—	likely benign
rs200449167	1:227,152,693	C/T	—	likely benign
rs2528248929	1:227,152,698	C/T	—	uncertain significance
rs532458270	1:227,152,699	A/G	—	likely pathogenic
rs369252071	1:227,152,701	G/A	—	uncertain significance
rs1572045723	1:227,152,715	T/C	—	likely benign
rs779601942	1:227,152,734	A/T	—	uncertain significance
rs377201559	1:227,152,742	C/T	—	likely benign
rs778948697	1:227,152,743	G/A	—	uncertain significance
rs1026870767	1:227,152,748	A/C	—	likely benign
rs2528249306	1:227,152,750	A/G	—	uncertain significance
rs771302737	1:227,152,757	G/C	—	uncertain significance
rs76249490	1:227,152,761	C/T	—	likely benign
rs113667144	1:227,152,763	C/T	—	likely benign
rs1378553045	1:227,152,774	C/T	—	uncertain significance
rs775657261	1:227,152,775	G/A	—	likely benign
rs2297411	1:227,152,778	T/G	—	likely benign
rs137872711	1:227,152,781	A/C	—	conflicting classifications of pathogenicity
rs138572539	1:227,152,782	G/A	—	likely benign
rs1658478354	1:227,152,783	C/T	—	uncertain significance
rs750098045	1:227,152,785	G/A	—	uncertain significance
rs141687205	1:227,152,786	G/T	—	uncertain significance
rs753305806	1:227,152,802	C/T	—	likely benign
rs1344240728	1:227,152,804	C/T	—	uncertain significance
rs111529228	1:227,152,814	C/T	—	conflicting classifications of pathogenicity
rs200000374	1:227,152,815	G/A	—	uncertain significance
rs543084403	1:227,152,820	C/T	—	conflicting classifications of pathogenicity
rs150696959	1:227,152,821	G/A	—	uncertain significance
rs775747227	1:227,152,831	C/T	—	uncertain significance
rs1268268386	1:227,152,832	G/A	—	likely benign
rs2528250090	1:227,152,835	C/A	—	likely benign
rs751042244	1:227,152,837	C/A	—	uncertain significance
rs556900094	1:227,152,842	C/G	—	uncertain significance
rs576613785	1:227,152,845	G/C	—	conflicting classifications of pathogenicity
rs2528250259	1:227,152,853	C/T	—	likely benign
rs147889685	1:227,152,858	G/A	—	uncertain significance
rs765966679	1:227,152,860	G/T	—	likely pathogenic
rs1328698795	1:227,152,864	G/A	—	uncertain significance
rs746577141	1:227,152,867	C/G	—	uncertain significance
rs1381984584	1:227,152,878	T/C	—	uncertain significance
rs754521569	1:227,152,880	C/T	—	likely benign
rs376347405	1:227,152,881	G/A	—	conflicting classifications of pathogenicity
rs139970507	1:227,152,907	C/T	—	likely benign
rs372953250	1:227,152,908	G/A	—	conflicting classifications of pathogenicity
rs780475557	1:227,152,910	G/C	—	likely benign
rs2148062236	1:227,152,915	C/T	—	uncertain significance
rs370659820	1:227,152,916	C/T	—	likely benign
rs774512029	1:227,152,917	G/A	—	uncertain significance
rs1553276966	1:227,152,920	C/T	—	likely pathogenic
rs1553276975	1:227,152,924	C/T	—	uncertain significance
rs1426470032	1:227,152,938	G/T	—	uncertain significance
rs772904808	1:227,152,949	C/T	—	likely benign
rs760566419	1:227,152,950	G/A	—	uncertain significance
rs2528251183	1:227,152,953	A/C	—	likely benign
rs2528251205	1:227,152,958	C/T	—	likely benign
rs863223882	1:227,152,968	C/T	—	likely benign
rs866764988	1:227,152,969	C/T	—	uncertain significance
rs147812454	1:227,152,990	T/C	—	uncertain significance
rs913285670	1:227,152,994	C/G	—	likely benign
rs756589820	1:227,153,001	C/T	—	pathogenic
rs755181824	1:227,153,016	C/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.