C1QB

complement C1q B chain

Summary

This gene encodes the B-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 Variants95 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs291985	1:22,980,939	A/C	intron variant	—
rs1642587219	1:22,985,953	A/T	—	uncertain significance
rs2522279347	1:22,985,968	T/G	—	uncertain significance
rs779270876	1:22,985,980	C/T	—	uncertain significance
rs772289848	1:22,985,992	T/C	—	likely benign
rs909697564	1:22,985,995	C/T	—	uncertain significance
rs1480028945	1:22,986,006	G/A	—	conflicting classifications of pathogenicity
rs77379868	1:22,986,015	C/T	—	likely benign
rs555943495	1:22,986,016	G/A	—	uncertain significance
rs1167283790	1:22,986,032	A/G	—	uncertain significance
rs2522279687	1:22,986,033	G/C	—	uncertain significance
rs748217347	1:22,986,045	C/T	—	likely benign
rs764348361	1:22,986,046	G/A	—	uncertain significance
rs2148305136	1:22,986,051	C/G	—	likely benign
rs142278562	1:22,986,057	C/G	—	benign
rs1258691670	1:22,986,071	C/T	—	uncertain significance
rs145215179	1:22,986,072	G/A	—	likely benign
rs1173113259	1:22,986,090	T/A	—	likely benign
rs748847255	1:22,986,096	C/T	—	likely benign
rs770317321	1:22,986,097	G/A	—	uncertain significance
rs147623518	1:22,986,111	G/A	—	benign
rs1642591589	1:22,986,119	G/C	—	uncertain significance
rs1361922961	1:22,986,137	G/T	—	pathogenic
rs1452958988	1:22,986,146	G/C	—	likely benign
rs765252911	1:22,986,148	T/A	—	likely benign
rs631090	1:22,986,403	T/C	intron variant	benign
rs57114857	1:22,987,070	T/C	—	benign
rs2148305959	1:22,987,316	C/T	—	likely benign
rs376904083	1:22,987,330	T/C	—	likely benign
rs1158228526	1:22,987,331	G/A	—	uncertain significance
rs1408908210	1:22,987,339	C/T	—	likely benign
rs35477594	1:22,987,340	G/A	—	conflicting classifications of pathogenicity
rs746836733	1:22,987,351	A/G	—	likely benign
rs1557612787	1:22,987,358	G/A	—	uncertain significance
rs761952858	1:22,987,365	C/T	—	uncertain significance
rs2148306046	1:22,987,390	C/G	—	likely benign
rs148813212	1:22,987,434	C/T	—	likely benign
rs946701959	1:22,987,441	C/A	—	likely benign
rs1642610885	1:22,987,443	C/T	—	uncertain significance
rs2148306111	1:22,987,446	A/G	—	uncertain significance
rs148746097	1:22,987,450	T/C	—	benign
rs745414763	1:22,987,455	C/T	—	uncertain significance
rs757946445	1:22,987,456	G/A	—	likely benign
rs200502843	1:22,987,460	G/T	—	uncertain significance
rs867527641	1:22,987,481	A/G	—	conflicting classifications of pathogenicity
rs746963250	1:22,987,483	C/T	—	likely benign
rs776292843	1:22,987,484	G/A	—	uncertain significance
rs1439582792	1:22,987,494	C/A	—	uncertain significance
rs2522286150	1:22,987,499	A/G	—	uncertain significance
rs1056279304	1:22,987,507	C/T	—	likely benign
rs145412230	1:22,987,510	C/T	—	likely benign
rs200457185	1:22,987,511	G/A	—	uncertain significance
rs753074108	1:22,987,521	G/A	—	uncertain significance
rs149072794	1:22,987,523	C/T	—	uncertain significance
rs199696043	1:22,987,524	G/A	—	uncertain significance
rs372067838	1:22,987,539	G/A	—	uncertain significance
rs2522286503	1:22,987,547	C/T	—	uncertain significance
rs376737563	1:22,987,549	C/T	—	likely benign
rs749536477	1:22,987,550	G/A	—	uncertain significance
rs1204106220	1:22,987,562	A/T	—	uncertain significance
rs772517476	1:22,987,580	C/A	—	uncertain significance
rs1375557492	1:22,987,583	C/T	—	uncertain significance
rs11549682	1:22,987,603	C/T	—	likely benign
rs140417615	1:22,987,612	C/T	—	benign
rs45574336	1:22,987,636	C/T	—	benign
rs2148306331	1:22,987,638	C/T	—	uncertain significance
rs751172449	1:22,987,646	C/T	—	likely pathogenic
rs1206457513	1:22,987,649	G/A	—	uncertain significance
rs146413025	1:22,987,660	C/T	—	likely benign
rs111512332	1:22,987,661	G/A	—	likely benign
rs149612866	1:22,987,666	C/T	—	likely benign
rs200910322	1:22,987,674	G/A	—	uncertain significance
rs772220643	1:22,987,679	C/T	—	uncertain significance
rs199953566	1:22,987,686	G/A	—	uncertain significance
rs147539765	1:22,987,696	G/A	—	likely benign
rs143834228	1:22,987,720	C/T	—	likely benign
rs147260497	1:22,987,724	A/T	—	conflicting classifications of pathogenicity
rs763937694	1:22,987,728	C/T	—	uncertain significance
rs1642618000	1:22,987,729	C/T	—	likely benign
rs149718049	1:22,987,744	C/T	—	likely benign
rs2522289070	1:22,987,746	G/A	—	uncertain significance
rs978051982	1:22,987,768	G/A	—	likely benign
rs529467973	1:22,987,780	C/T	—	benign
rs144135717	1:22,987,787	C/T	—	likely benign
rs146518300	1:22,987,798	C/T	—	likely benign
rs773663676	1:22,987,799	G/A	—	uncertain significance
rs759242130	1:22,987,801	C/A	—	uncertain significance
rs2522289590	1:22,987,814	C/T	—	likely benign
rs2522289682	1:22,987,825	G/A	—	likely benign
rs143233049	1:22,987,846	C/T	—	likely benign
rs34813378	1:22,987,847	G/A	missense variant	pathogenic
rs2148306572	1:22,987,848	G/C	—	uncertain significance
rs113061112	1:22,987,864	A/C	—	likely benign
rs1004933250	1:22,987,868	A/G	—	uncertain significance
rs10580	1:22,987,958	A/G	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.