COG5

component of oligomeric golgi complex 5

Summary

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]

Known Variants735 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs534075932	7:106,842,219	C/T	—	uncertain significance
rs773755170	7:106,842,241	T/C	—	uncertain significance
rs886061867	7:106,842,477	A/G	—	uncertain significance
rs183289135	7:106,842,493	C/A	—	uncertain significance
rs551727433	7:106,842,512	C/T	—	uncertain significance
rs1798368433	7:106,842,535	T/C	—	uncertain significance
rs190095596	7:106,842,621	T/C	—	uncertain significance
rs530897270	7:106,842,718	A/G	—	uncertain significance
rs115287891	7:106,842,850	G/A	—	likely benign
rs886061869	7:106,842,964	C/T	—	uncertain significance
rs886061870	7:106,842,975	C/T	—	uncertain significance
rs1003504113	7:106,843,094	T/C	—	uncertain significance
rs540645627	7:106,843,096	G/C	—	uncertain significance
rs1258415041	7:106,843,099	G/C	—	uncertain significance
rs7981	7:106,843,133	G/C	—	benign
rs149142658	7:106,843,283	A/G	—	likely benign
rs527645957	7:106,843,327	A/G	—	uncertain significance
rs548613467	7:106,843,339	G/A	—	uncertain significance
rs894757078	7:106,843,344	T/G	—	uncertain significance
rs6958137	7:106,843,349	C/T	—	uncertain significance
rs772464238	7:106,843,355	T/C	—	uncertain significance
rs1422526244	7:106,843,372	C/T	—	uncertain significance
rs538476088	7:106,843,411	T/C	—	uncertain significance
rs1798468428	7:106,843,463	A/C	—	uncertain significance
rs886061871	7:106,843,493	G/T	—	uncertain significance
rs193127052	7:106,843,524	T/C	—	conflicting classifications of pathogenicity
rs912460078	7:106,843,552	A/G	—	uncertain significance
rs1798486114	7:106,843,655	G/T	—	uncertain significance
rs6958494	7:106,843,668	A/G	—	likely benign
rs886061872	7:106,843,714	A/G	—	uncertain significance
rs577491628	7:106,843,724	A/G	—	uncertain significance
rs1281689688	7:106,843,741	C/T	—	uncertain significance
rs1798496835	7:106,843,796	G/A	—	uncertain significance
rs1000375620	7:106,843,799	A/G	—	uncertain significance
rs188638963	7:106,843,804	A/G	—	uncertain significance
rs1798504316	7:106,843,872	T/C	—	uncertain significance
rs937117794	7:106,843,909	C/T	—	uncertain significance
rs750444305	7:106,843,953	T/G	—	uncertain significance
rs1584516001	7:106,843,964	C/T	—	likely benign
rs549788738	7:106,843,966	G/A	—	conflicting classifications of pathogenicity
rs2535714463	7:106,843,968	A/C	—	uncertain significance
rs746763077	7:106,843,969	G/A	—	uncertain significance
rs563267149	7:106,843,970	A/G	—	likely benign
rs747809652	7:106,843,972	C/G	—	uncertain significance
rs1798513137	7:106,843,974	G/A	—	uncertain significance
rs2116084157	7:106,843,978	T/G	—	uncertain significance
rs1798514537	7:106,843,981	C/A	—	uncertain significance
rs1409627663	7:106,843,993	G/A	—	likely benign
rs34100214	7:106,843,995	T/G	—	uncertain significance
rs2116084715	7:106,843,999	C/G	—	uncertain significance
rs760038268	7:106,844,000	C/T	—	uncertain significance
rs1005257968	7:106,844,002	T/C	—	uncertain significance
rs775853693	7:106,844,018	T/A	—	likely benign
rs1798520770	7:106,844,026	C/A	—	pathogenic
rs2535715134	7:106,844,036	T/A	—	uncertain significance
rs2535715163	7:106,844,039	A/G	—	likely benign
rs141942249	7:106,844,050	A/G	—	conflicting classifications of pathogenicity
rs762082725	7:106,844,052	T/C	—	uncertain significance
rs1228532042	7:106,844,061	G/C	—	uncertain significance
rs12537730	7:106,844,281	T/C	—	benign
rs6949961	7:106,850,755	T/G	—	benign
rs73415411	7:106,850,938	C/A	—	benign
rs2535755351	7:106,850,956	A/G	—	likely benign
rs2535755366	7:106,850,959	A/G	—	likely benign
rs1201777354	7:106,850,964	G/A	—	likely benign
rs2116193173	7:106,850,971	C/T	—	uncertain significance
rs2116193413	7:106,850,982	G/A	—	likely benign
rs776997784	7:106,850,985	C/T	—	likely benign
rs761946629	7:106,850,986	C/A	—	uncertain significance
rs2116193691	7:106,850,994	T/A	—	uncertain significance
rs773449359	7:106,850,999	A/G	—	uncertain significance
rs2116193767	7:106,851,000	T/A	—	likely benign
rs766539340	7:106,851,011	C/T	—	uncertain significance
rs149616917	7:106,851,019	T/C	—	uncertain significance
rs966232647	7:106,851,024	G/T	—	uncertain significance
rs1221934619	7:106,851,028	C/T	—	uncertain significance
rs767217808	7:106,851,029	G/A	—	uncertain significance
rs1481104744	7:106,851,037	G/A	—	uncertain significance
rs1799090817	7:106,851,042	C/G	—	uncertain significance
rs184760203	7:106,851,047	C/A	—	uncertain significance
rs1799092167	7:106,851,054	C/A	—	likely benign
rs2535756082	7:106,851,056	G/C	—	uncertain significance
rs778380856	7:106,851,057	G/C	—	uncertain significance
rs751658237	7:106,851,065	C/G	—	likely benign
rs1432868393	7:106,851,067	C/T	—	likely benign
rs1799094179	7:106,851,068	A/G	—	likely benign
rs7784140	7:106,851,102	C/T	—	likely benign
rs148809465	7:106,851,200	G/A	—	likely benign
rs781741325	7:106,851,524	G/T	—	likely benign
rs748577968	7:106,851,526	C/G	—	likely benign
rs1026401988	7:106,851,531	C/T	—	likely benign
rs377392848	7:106,851,536	T/C	—	likely benign
rs1212652543	7:106,851,544	C/A	—	uncertain significance
rs1358654712	7:106,851,556	T/C	—	likely benign
rs2116201517	7:106,851,559	C/G	—	likely benign
rs1799130516	7:106,851,565	A/C	—	likely benign
rs370066143	7:106,851,567	C/T	—	uncertain significance
rs145648013	7:106,851,568	G/A	—	conflicting classifications of pathogenicity
rs148259908	7:106,851,570	G/A	—	uncertain significance
rs2116201860	7:106,851,576	T/A	—	pathogenic

Showing 100 of 735 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.