COQ8B

coenzyme Q8B

Summary

This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Known Variants225 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs111409979	19:41,197,766	G/A	—	likely benign
rs79441132	19:41,197,803	C/T	—	likely benign
rs61742811	19:41,197,930	A/G	—	likely benign
rs1168199366	19:41,197,943	T/C	—	likely benign
rs1200732748	19:41,197,992	G/C	—	uncertain significance
rs763305708	19:41,197,996	C/T	—	uncertain significance
rs56276635	19:41,197,997	G/A	—	benign
rs2515470784	19:41,198,009	A/G	—	likely benign
rs369205319	19:41,198,015	C/T	—	conflicting classifications of pathogenicity
rs746915084	19:41,198,023	G/A	—	uncertain significance
rs199651767	19:41,198,056	C/T	—	likely benign
rs777906112	19:41,198,057	G/A	—	likely benign
rs953899645	19:41,198,071	G/A	—	uncertain significance
rs761401672	19:41,198,087	G/A	—	conflicting classifications of pathogenicity
rs750037594	19:41,198,107	G/A	—	conflicting classifications of pathogenicity
rs139063940	19:41,198,110	G/A	—	uncertain significance
rs751280402	19:41,198,116	C/A	—	uncertain significance
rs1171380892	19:41,198,144	C/A	—	likely benign
rs371633001	19:41,198,151	C/T	—	uncertain significance
rs776070003	19:41,198,152	G/T	—	likely benign
rs61746183	19:41,198,156	C/T	—	likely benign
rs762706120	19:41,198,162	C/T	—	likely benign
rs200660600	19:41,198,171	G/A	—	likely benign
rs185934352	19:41,198,184	C/T	—	uncertain significance
rs367757539	19:41,198,198	C/T	—	likely benign
rs17851001	19:41,198,210	A/G	—	benign
rs144343899	19:41,198,211	T/C	—	conflicting classifications of pathogenicity
rs142420160	19:41,198,228	G/A	—	benign
rs763929551	19:41,198,251	C/T	—	conflicting classifications of pathogenicity
rs754012618	19:41,198,260	C/T	—	uncertain significance
rs1391628357	19:41,198,261	G/A	—	likely benign
rs141216816	19:41,198,267	G/A	—	likely benign
rs139130454	19:41,198,270	G/A	—	likely benign
rs1218997842	19:41,198,271	G/A	—	uncertain significance
rs1599922006	19:41,198,280	T/C	—	pathogenic
rs1261602445	19:41,198,283	G/T	—	likely benign
rs199934542	19:41,198,284	A/C	—	conflicting classifications of pathogenicity
rs1422165614	19:41,198,287	G/C	—	likely benign
rs1422279168	19:41,198,288	G/C	—	likely benign
rs774086810	19:41,198,291	G/A	—	likely benign
rs745562919	19:41,198,293	G/C	—	likely benign
rs117003019	19:41,198,457	A/G	—	likely benign
rs2604880	19:41,198,482	T/C	—	benign
rs76120520	19:41,198,517	C/G	—	likely benign
rs78991192	19:41,198,635	C/T	—	likely benign
rs778338607	19:41,198,843	A/G	—	benign
rs776659718	19:41,198,874	G/C	—	likely benign
rs769747498	19:41,198,878	A/T	—	uncertain significance
rs1440337106	19:41,198,901	C/T	—	likely benign
rs2081986403	19:41,198,941	A/G	—	uncertain significance
rs77801349	19:41,198,952	C/T	—	likely benign
rs182723600	19:41,201,770	A/G	—	likely benign
rs187371953	19:41,201,852	G/A	—	likely benign
rs1251921265	19:41,201,876	G/A	—	likely benign
rs148712761	19:41,201,894	C/T	—	uncertain significance
rs142287240	19:41,201,897	G/A	—	likely benign
rs1318617277	19:41,201,917	C/T	—	uncertain significance
rs765720942	19:41,201,931	C/T	—	uncertain significance
rs1361178932	19:41,201,977	T/C	—	likely benign
rs1361328591	19:41,205,987	A/G	—	likely benign
rs78185540	19:41,205,990	A/G	—	likely benign
rs56056214	19:41,205,996	A/G	—	likely benign
rs1424180100	19:41,206,009	T/G	—	uncertain significance
rs2086304691	19:41,206,023	C/G	—	uncertain significance
rs757057069	19:41,206,025	T/C	—	uncertain significance
rs146616224	19:41,206,031	G/A	—	pathogenic
rs1555756422	19:41,206,035	C/T	—	likely benign
rs36012476	19:41,206,060	G/C	—	likely benign
rs375860406	19:41,206,072	A/T	—	uncertain significance
rs1555756433	19:41,206,078	A/C	—	uncertain significance
rs200061712	19:41,206,082	G/C	—	conflicting classifications of pathogenicity
rs202196406	19:41,206,202	C/G	—	likely benign
rs376627440	19:41,206,207	C/T	—	likely benign
rs2246095	19:41,206,208	A/G	—	benign
rs368182892	19:41,206,212	T/C	—	conflicting classifications of pathogenicity
rs2082051467	19:41,206,213	A/G	—	pathogenic
rs398122981	19:41,206,223	G/A	missense variant	pathogenic
rs767633318	19:41,206,260	G/A	—	likely benign
rs752758349	19:41,206,262	C/T	—	uncertain significance
rs375247053	19:41,206,282	C/T	—	uncertain significance
rs369573693	19:41,206,292	G/A	missense variant	pathogenic
rs1313735761	19:41,206,296	C/T	—	likely benign
rs55899516	19:41,206,297	G/A	—	uncertain significance
rs369004265	19:41,206,307	C/T	—	uncertain significance
rs776342195	19:41,206,316	C/T	—	uncertain significance
rs147037877	19:41,206,327	C/T	—	uncertain significance
rs572681951	19:41,206,328	G/A	—	likely benign
rs759527410	19:41,206,359	G/C	—	uncertain significance
rs201215087	19:41,206,365	G/A	—	likely benign
rs186344872	19:41,208,429	A/G	—	likely benign
rs759259550	19:41,208,503	A/T	—	pathogenic
rs190695126	19:41,208,504	C/A	—	pathogenic
rs1473257164	19:41,208,521	A/G	—	uncertain significance
rs760835229	19:41,208,525	C/T	—	likely benign
rs138255798	19:41,208,526	G/A	—	uncertain significance
rs142018195	19:41,208,535	C/T	—	conflicting classifications of pathogenicity
rs398122979	19:41,208,541	T/C	missense variant	pathogenic
rs1364194758	19:41,208,545	A/G	—	uncertain significance
rs780730921	19:41,208,552	A/T	—	likely benign
rs200480831	19:41,208,572	C/G	—	conflicting classifications of pathogenicity

Showing 100 of 225 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.