COG4

component of oligomeric golgi complex 4

Summary

The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

Known Variants296 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17881236	16:70,514,382	G/A	downstream gene variant	—
rs7919	16:70,514,828	C/A	—	benign
rs192714339	16:70,514,906	C/G	—	likely benign
rs142971847	16:70,514,920	C/T	—	uncertain significance
rs760163512	16:70,514,925	C/G	—	uncertain significance
rs765871294	16:70,514,935	T/C	—	uncertain significance
rs987662091	16:70,514,940	A/G	—	likely benign
rs1407223681	16:70,514,941	C/T	—	uncertain significance
rs1567718770	16:70,514,951	C/G	—	uncertain significance
rs387907203	16:70,514,965	A/C	missense variant	pathogenic
rs533161794	16:70,514,973	G/C	—	conflicting classifications of pathogenicity
rs1206169304	16:70,514,975	G/A	—	uncertain significance
rs184431716	16:70,514,990	T/C	—	uncertain significance
rs543968780	16:70,514,995	C/T	—	uncertain significance
rs773762934	16:70,514,996	G/A	—	uncertain significance
rs376925549	16:70,515,001	G/A	—	uncertain significance
rs113010015	16:70,515,005	A/G	—	likely benign
rs1056975658	16:70,515,015	A/G	—	likely benign
rs200083914	16:70,515,032	C/T	—	conflicting classifications of pathogenicity
rs767522005	16:70,515,036	G/T	—	likely benign
rs753920873	16:70,515,041	C/T	—	uncertain significance
rs2507461603	16:70,515,047	C/T	—	uncertain significance
rs17879608	16:70,515,063	T/C	—	benign
rs200259754	16:70,515,272	T/C	—	uncertain significance
rs1416383272	16:70,515,273	T/C	—	uncertain significance
rs2151736844	16:70,515,281	G/A	—	uncertain significance
rs141625180	16:70,515,299	C/T	—	uncertain significance
rs267606740	16:70,515,300	G/A	missense variant	pathogenic
rs774066629	16:70,515,326	G/T	—	uncertain significance
rs150547677	16:70,515,334	C/T	—	benign
rs1056526236	16:70,515,335	G/T	—	uncertain significance
rs373406697	16:70,515,347	G/A	—	uncertain significance
rs11054	16:70,515,355	T/C	—	benign
rs751809847	16:70,515,356	G/C	—	uncertain significance
rs1175120451	16:70,515,377	T/C	—	uncertain significance
rs2151736960	16:70,515,383	C/G	—	uncertain significance
rs2151736985	16:70,515,408	C/T	—	likely benign
rs6416698	16:70,515,600	T/G	—	benign
rs2507464454	16:70,515,663	T/C	—	uncertain significance
rs776426825	16:70,515,669	G/A	—	uncertain significance
rs760243241	16:70,515,678	T/C	—	uncertain significance
rs2048999850	16:70,515,689	A/G	—	uncertain significance
rs1597651455	16:70,515,690	C/A	—	uncertain significance
rs1275586097	16:70,515,692	A/G	—	uncertain significance
rs2507464630	16:70,515,697	C/A	—	uncertain significance
rs376705726	16:70,515,706	G/A	—	likely benign
rs2049001168	16:70,515,728	A/C	—	uncertain significance
rs547599836	16:70,515,732	C/T	—	conflicting classifications of pathogenicity
rs1057518545	16:70,515,739	G/T	—	uncertain significance
rs201323781	16:70,515,743	T/C	—	conflicting classifications of pathogenicity
rs201489417	16:70,515,744	C/T	—	uncertain significance
rs2151737380	16:70,515,747	A/G	—	uncertain significance
rs140971621	16:70,515,754	C/T	—	likely benign
rs539535604	16:70,515,767	G/A	—	likely pathogenic
rs1555573157	16:70,515,768	C/G	—	likely pathogenic
rs771133197	16:70,515,985	C/T	—	likely benign
rs776728646	16:70,515,995	C/T	—	uncertain significance
rs1371778296	16:70,516,021	G/A	—	likely benign
rs533517454	16:70,516,038	T/C	—	uncertain significance
rs751066238	16:70,516,049	G/A	—	likely benign
rs372849778	16:70,516,051	C/T	—	uncertain significance
rs767131534	16:70,516,052	G/A	—	likely benign
rs144763147	16:70,516,068	T/C	—	uncertain significance
rs189821897	16:70,516,072	A/G	—	conflicting classifications of pathogenicity
rs374848918	16:70,516,087	A/G	—	likely benign
rs12447090	16:70,516,109	G/A	—	benign
rs146747816	16:70,516,158	G/A	—	likely benign
rs9933510	16:70,516,228	C/G	—	benign
rs11864184	16:70,516,390	G/A	—	benign
rs74026053	16:70,516,478	T/C	—	benign
rs1597652997	16:70,516,642	T/A	—	uncertain significance
rs772560552	16:70,516,652	C/T	—	uncertain significance
rs138701123	16:70,516,658	A/G	—	conflicting classifications of pathogenicity
rs765074288	16:70,516,677	C/A	—	uncertain significance
rs1377561023	16:70,516,694	T/C	—	likely benign
rs1048764460	16:70,516,712	C/A	—	pathogenic
rs565871794	16:70,516,713	C/T	—	likely benign
rs755376017	16:70,516,714	G/A	—	uncertain significance
rs1555573396	16:70,516,734	G/T	—	likely benign
rs34329336	16:70,517,641	A/G	—	benign
rs372162273	16:70,517,744	C/G	—	likely benign
rs2151739637	16:70,517,767	C/G	—	uncertain significance
rs767599010	16:70,517,785	C/T	—	uncertain significance
rs759705702	16:70,517,788	C/T	—	uncertain significance
rs113455884	16:70,517,824	G/T	—	likely benign
rs540302874	16:70,517,861	G/C	—	likely benign
rs747661666	16:70,517,863	T/A	—	uncertain significance
rs375556502	16:70,517,882	A/G	—	likely benign
rs78030282	16:70,518,201	G/C	—	likely benign
rs74026056	16:70,524,216	G/C	—	benign
rs373254748	16:70,524,219	A/G	—	likely benign
rs540667522	16:70,524,280	C/T	—	uncertain significance
rs777747818	16:70,524,304	T/G	—	likely benign
rs770851169	16:70,524,307	G/A	—	likely benign
rs116925701	16:70,524,439	C/T	—	likely benign
rs78104579	16:70,530,120	T/C	—	likely benign
rs745843280	16:70,530,149	G/A	—	likely benign
rs768691305	16:70,530,156	G/A	—	likely benign
rs771255200	16:70,530,184	C/T	—	likely benign
rs886052258	16:70,530,185	G/A	—	uncertain significance

Showing 100 of 296 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.