C1QC

complement C1q C chain

Summary

This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]

Known Variants128 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs682658	1:22,968,815	G/T	regulatory region variant	—
rs551820328	1:22,970,520	G/A	—	uncertain significance
rs148237661	1:22,970,522	C/T	—	likely benign
rs367838299	1:22,970,524	T/C	—	conflicting classifications of pathogenicity
rs1182130955	1:22,970,530	C/G	—	uncertain significance
rs371546823	1:22,970,535	T/A	—	likely benign
rs377290060	1:22,970,536	C/A	—	likely benign
rs2148294447	1:22,970,539	T/C	—	uncertain significance
rs1324006563	1:22,970,546	C/T	—	likely benign
rs1570079690	1:22,970,558	G/A	—	likely benign
rs1018798224	1:22,970,559	C/T	—	likely benign
rs1281910503	1:22,970,564	G/A	—	likely benign
rs2522208990	1:22,970,576	G/C	—	likely benign
rs2148294532	1:22,970,606	A/G	—	likely benign
rs146998562	1:22,970,615	C/T	—	likely benign
rs200206736	1:22,970,616	G/A	missense variant	pathogenic
rs775936243	1:22,970,619	A/G	—	uncertain significance
rs772835925	1:22,970,633	C/T	—	likely benign
rs15940	1:22,970,642	C/T	—	benign
rs1246496075	1:22,970,663	G/T	—	likely benign
rs1043458334	1:22,970,666	C/T	—	likely benign
rs764470926	1:22,970,668	A/T	—	uncertain significance
rs534757506	1:22,970,669	C/T	—	likely benign
rs1642327418	1:22,970,673	C/T	—	likely benign
rs193175681	1:22,970,678	G/A	—	likely benign
rs1642328073	1:22,970,680	G/A	—	uncertain significance
rs780418859	1:22,970,685	A/C	—	uncertain significance
rs2148294743	1:22,970,703	T/A	—	uncertain significance
rs768882403	1:22,970,714	G/A	—	likely benign
rs2522210415	1:22,970,717	T/C	—	likely benign
rs111257252	1:22,970,790	A/T	—	benign
rs666656	1:22,970,828	G/T	—	benign
rs12073436	1:22,970,908	T/C	—	benign
rs666537	1:22,970,925	T/C	—	benign
rs653286	1:22,971,584	A/G	intron variant	—
rs294183	1:22,972,098	C/T	intron variant	—
rs36049190	1:22,973,699	C/G	—	benign
rs536551988	1:22,973,736	C/T	—	likely benign
rs780658153	1:22,973,737	G/A	—	uncertain significance
rs377549148	1:22,973,743	C/T	stop gained	pathogenic
rs369576195	1:22,973,749	C/T	—	uncertain significance
rs148662464	1:22,973,751	C/G	—	benign
rs778430178	1:22,973,753	A/C	—	uncertain significance
rs1204533328	1:22,973,763	G/A	—	likely benign
rs373488869	1:22,973,768	A/G	—	uncertain significance
rs140114929	1:22,973,770	C/T	—	uncertain significance
rs112294511	1:22,973,772	C/T	—	likely benign
rs1410758716	1:22,973,787	T/C	—	likely benign
rs372353706	1:22,973,790	T/C	—	likely benign
rs2148297063	1:22,973,793	G/C	—	likely benign
rs2148297090	1:22,973,809	G/T	—	uncertain significance
rs2522224265	1:22,973,811	A/G	—	likely benign
rs751609608	1:22,973,812	C/A	—	uncertain significance
rs555074944	1:22,973,826	A/G	—	likely benign
rs573280002	1:22,973,831	T/G	—	uncertain significance
rs1642386311	1:22,973,848	A/G	—	uncertain significance
rs771703530	1:22,973,850	C/T	—	likely benign
rs2148297157	1:22,973,857	G/A	—	uncertain significance
rs1446058567	1:22,973,859	G/T	—	uncertain significance
rs1027207816	1:22,973,871	G/A	—	likely benign
rs1357865035	1:22,973,874	C/A	—	likely benign
rs1642387150	1:22,973,880	C/T	—	likely benign
rs2522225203	1:22,973,902	T/C	—	uncertain significance
rs769678626	1:22,973,904	C/T	—	likely benign
rs369345026	1:22,973,906	C/T	—	uncertain significance
rs201220163	1:22,973,907	G/A	—	likely benign
rs151045868	1:22,973,910	C/T	—	likely benign
rs759613063	1:22,973,914	C/T	—	uncertain significance
rs2522225388	1:22,973,922	C/T	—	uncertain significance
rs764386104	1:22,973,929	C/G	—	uncertain significance
rs368674737	1:22,973,930	C/G	—	uncertain significance
rs1176934793	1:22,973,950	A/T	—	uncertain significance
rs766090445	1:22,973,961	C/T	—	likely benign
rs147904988	1:22,973,962	G/A	—	conflicting classifications of pathogenicity
rs769724909	1:22,973,963	C/A	—	uncertain significance
rs141293786	1:22,973,964	G/A	—	likely benign
rs749046758	1:22,973,967	C/T	—	likely benign
rs149118819	1:22,973,976	C/A	—	uncertain significance
rs146206456	1:22,973,979	G/A	—	likely benign
rs1052042	1:22,973,983	G/A	—	uncertain significance
rs552511537	1:22,973,996	C/T	—	uncertain significance
rs201352064	1:22,973,997	G/A	—	likely benign
rs757626727	1:22,973,998	A/G	—	uncertain significance
rs751223765	1:22,974,014	C/A	—	uncertain significance
rs2148297349	1:22,974,015	C/A	—	likely benign
rs780872167	1:22,974,027	C/T	—	likely benign
rs752596663	1:22,974,028	G/A	missense variant	pathogenic
rs770740995	1:22,974,045	C/T	—	likely benign
rs746122612	1:22,974,051	C/G	—	uncertain significance
rs560156356	1:22,974,053	C/T	—	uncertain significance
rs369658525	1:22,974,054	G/C	—	likely benign
rs765727282	1:22,974,066	C/A	—	likely benign
rs750769493	1:22,974,069	C/A	—	uncertain significance
rs150732699	1:22,974,075	C/T	—	likely benign
rs200292688	1:22,974,076	G/A	—	uncertain significance
rs2522227088	1:22,974,083	T/C	—	uncertain significance
rs1266627428	1:22,974,086	A/G	—	uncertain significance
rs777624236	1:22,974,088	C/T	—	uncertain significance
rs753779937	1:22,974,089	G/A	—	uncertain significance
rs2522227213	1:22,974,090	C/T	—	likely benign

Showing 100 of 128 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.