COG6

component of oligomeric golgi complex 6

Summary

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

Known Variants315 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9548866	13:40,229,420	C/T	—	benign
rs9548867	13:40,229,568	A/T	—	benign
rs9548868	13:40,229,585	C/T	—	benign
rs7327779	13:40,229,724	A/G	—	benign
rs9603589	13:40,229,744	C/T	—	benign
rs548475910	13:40,229,797	A/T	—	uncertain significance
rs534007509	13:40,229,811	T/G	—	likely benign
rs1442379324	13:40,229,814	G/A	—	uncertain significance
rs773473260	13:40,229,820	C/G	—	uncertain significance
rs374821573	13:40,229,821	C/T	—	likely benign
rs188328396	13:40,229,823	G/C	—	likely benign
rs772205293	13:40,229,854	G/C	—	uncertain significance
rs752232501	13:40,229,864	A/G	—	conflicting classifications of pathogenicity
rs575588033	13:40,229,870	G/C	—	uncertain significance
rs1016478271	13:40,229,872	G/C	—	uncertain significance
rs886050223	13:40,229,875	C/T	—	uncertain significance
rs2500518447	13:40,229,887	G/A	—	likely benign
rs2137932050	13:40,229,889	T/A	—	uncertain significance
rs3812882	13:40,229,891	G/A	—	benign
rs2500518512	13:40,229,895	T/A	—	uncertain significance
rs2500518518	13:40,229,897	T/A	—	uncertain significance
rs886050224	13:40,229,900	G/A	—	uncertain significance
rs1023985092	13:40,229,906	G/A	—	uncertain significance
rs2137932213	13:40,229,916	A/G	—	uncertain significance
rs149055210	13:40,229,928	A/G	—	likely benign
rs372786424	13:40,229,932	G/A	—	likely benign
rs539907116	13:40,229,933	G/T	—	uncertain significance
rs776763438	13:40,229,943	C/G	—	uncertain significance
rs374783198	13:40,229,947	G/A	—	likely benign
rs1566165324	13:40,229,949	C/T	—	uncertain significance
rs3812883	13:40,229,957	T/A	—	benign
rs576575818	13:40,229,958	G/T	—	uncertain significance
rs794726950	13:40,229,975	A/T	stop gained	pathogenic
rs148246113	13:40,229,982	A/G	—	uncertain significance
rs757337069	13:40,229,986	G/A	—	likely benign
rs746085866	13:40,229,989	C/T	—	likely benign
rs545371712	13:40,229,997	C/T	—	uncertain significance
rs371609631	13:40,230,027	C/A	—	likely benign
rs45508796	13:40,230,035	G/A	—	likely benign
rs3812884	13:40,230,043	C/T	—	benign
rs117960821	13:40,230,066	C/T	—	benign
rs3812885	13:40,230,122	A/C	—	benign
rs3812886	13:40,230,216	G/A	—	benign
rs3812887	13:40,230,229	C/T	—	benign
rs3812888	13:40,230,294	T/C	—	benign
rs1190636194	13:40,230,408	A/G	—	pathogenic
rs7993729	13:40,233,294	T/G	—	benign
rs7330515	13:40,233,404	T/C	—	benign
rs368678409	13:40,233,489	C/T	—	likely benign
rs1593402927	13:40,233,499	A/G	—	likely pathogenic
rs201308360	13:40,233,502	A/G	—	uncertain significance
rs1489569773	13:40,233,519	A/G	—	uncertain significance
rs780705604	13:40,233,550	G/A	—	uncertain significance
rs769263578	13:40,233,556	G/A	—	uncertain significance
rs759735412	13:40,233,583	T/C	—	uncertain significance
rs753029623	13:40,233,588	C/A	—	uncertain significance
rs141356976	13:40,233,592	A/G	—	conflicting classifications of pathogenicity
rs1555273437	13:40,233,605	C/T	—	likely benign
rs751870618	13:40,233,607	A/G	—	uncertain significance
rs146261996	13:40,233,608	T/C	—	likely benign
rs1164875548	13:40,233,648	T/C	—	likely benign
rs7330016	13:40,233,691	C/T	—	benign
rs6563737	13:40,233,966	C/A	—	benign
rs143505346	13:40,234,850	T/G	—	likely benign
rs905292489	13:40,234,939	C/A	—	likely benign
rs75701196	13:40,234,946	G/A	—	likely pathogenic
rs866336771	13:40,234,948	A/T	—	uncertain significance
rs764185523	13:40,234,952	T/C	—	likely benign
rs569342516	13:40,234,957	G/A	—	uncertain significance
rs770411791	13:40,234,959	A/G	—	uncertain significance
rs767854952	13:40,234,964	C/T	—	likely benign
rs146229425	13:40,234,969	A/T	—	conflicting classifications of pathogenicity
rs111943857	13:40,234,985	C/T	—	likely benign
rs747786524	13:40,234,987	A/G	—	likely benign
rs139313781	13:40,235,007	A/G	—	conflicting classifications of pathogenicity
rs762985352	13:40,235,011	G/A	—	uncertain significance
rs768761061	13:40,235,015	A/G	—	likely benign
rs963188886	13:40,235,022	T/C	—	uncertain significance
rs368677211	13:40,235,031	G/A	—	likely benign
rs76811478	13:40,235,185	A/G	—	benign
rs4277227	13:40,239,003	A/T	—	benign
rs4569133	13:40,239,044	T/G	—	benign
rs7991151	13:40,239,139	G/A	—	benign
rs184193902	13:40,239,215	A/G	—	likely benign
rs1259563970	13:40,239,251	C/T	—	pathogenic
rs1048525230	13:40,239,285	C/A	—	uncertain significance
rs9603591	13:40,239,523	T/C	—	benign
rs6563739	13:40,239,785	G/T	upstream gene variant	—
rs4485233	13:40,251,422	A/G	—	benign
rs751583018	13:40,251,619	T/C	—	uncertain significance
rs146054602	13:40,251,659	A/C	—	uncertain significance
rs200177031	13:40,251,687	C/T	stop gained	pathogenic
rs750187608	13:40,251,688	G/A	—	uncertain significance
rs1322763277	13:40,251,711	A/G	—	uncertain significance
rs1593418085	13:40,251,716	G/A	—	likely pathogenic
rs12716677	13:40,251,851	A/T	—	benign
rs9576886	13:40,252,030	A/G	—	benign
rs781524524	13:40,253,690	C/A	—	uncertain significance
rs770351109	13:40,253,736	G/T	—	uncertain significance
rs142984333	13:40,253,741	A/C	—	uncertain significance

Showing 100 of 315 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.