C3

complement C3

Summary

Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]

Known Variants1,074 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11569585	19:6,677,799	A/G	—	benign
rs2512223715	19:6,677,898	T/C	—	uncertain significance
rs756442896	19:6,677,934	C/A	—	uncertain significance
rs377762182	19:6,677,938	G/A	—	conflicting classifications of pathogenicity
rs780251209	19:6,677,944	C/T	—	conflicting classifications of pathogenicity
rs1917752597	19:6,677,950	T/C	—	likely benign
rs34370481	19:6,677,963	T/C	—	uncertain significance
rs1355201994	19:6,677,974	G/A	—	likely benign
rs2512223846	19:6,677,978	T/G	—	uncertain significance
rs139388954	19:6,677,979	C/G	—	uncertain significance
rs201563777	19:6,677,980	G/A	—	likely benign
rs373087196	19:6,677,985	C/T	—	uncertain significance
rs17030	19:6,677,989	A/G	—	benign
rs2145388177	19:6,677,993	C/T	—	uncertain significance
rs200816772	19:6,677,998	C/G	—	uncertain significance
rs1803223	19:6,678,007	A/G	—	likely benign
rs2512223966	19:6,678,015	T/A	—	likely pathogenic
rs1727088882	19:6,678,018	C/A	—	uncertain significance
rs2512223996	19:6,678,023	A/C	—	uncertain significance
rs2230210	19:6,678,030	T/G	—	conflicting classifications of pathogenicity
rs112179814	19:6,678,035	C/A	—	uncertain significance
rs1917757044	19:6,678,042	G/C	—	likely benign
rs370787795	19:6,678,052	A/G	—	likely benign
rs1199976780	19:6,678,143	C/T	—	likely benign
rs748416799	19:6,678,151	G/T	—	conflicting classifications of pathogenicity
rs879114238	19:6,678,157	A/T	—	uncertain significance
rs185428134	19:6,678,160	C/T	—	likely benign
rs1917765607	19:6,678,167	G/C	—	uncertain significance
rs1300064126	19:6,678,168	C/T	—	likely benign
rs1917765820	19:6,678,170	T/C	—	uncertain significance
rs141661874	19:6,678,175	C/A	—	uncertain significance
rs150537373	19:6,678,186	G/A	—	conflicting classifications of pathogenicity
rs139457470	19:6,678,189	G/A	—	conflicting classifications of pathogenicity
rs2145388688	19:6,678,190	G/A	—	uncertain significance
rs2512224651	19:6,678,200	A/G	—	uncertain significance
rs2512224654	19:6,678,201	C/G	—	uncertain significance
rs761512303	19:6,678,202	A/G	—	uncertain significance
rs762332809	19:6,678,210	G/A	—	conflicting classifications of pathogenicity
rs766935351	19:6,678,211	T/C	—	uncertain significance
rs1405561676	19:6,678,213	T/A	—	uncertain significance
rs768057515	19:6,678,219	C/T	—	likely benign
rs149675330	19:6,678,222	C/T	—	likely benign
rs2512224728	19:6,678,224	C/G	—	uncertain significance
rs1298858967	19:6,678,229	T/A	—	uncertain significance
rs753981448	19:6,678,234	G/T	—	likely benign
rs144589541	19:6,678,246	C/T	—	conflicting classifications of pathogenicity
rs2145388816	19:6,678,249	G/A	—	likely benign
rs746985605	19:6,678,254	G/A	—	conflicting classifications of pathogenicity
rs780979839	19:6,678,264	C/T	—	likely benign
rs367971651	19:6,678,265	G/A	—	uncertain significance
rs561663982	19:6,678,267	G/A	—	likely benign
rs773903830	19:6,678,288	C/G	—	uncertain significance
rs1390001807	19:6,678,294	C/T	—	likely benign
rs760015509	19:6,678,297	G/A	—	likely benign
rs1385497218	19:6,678,303	A/G	—	likely benign
rs138474927	19:6,678,312	G/C	—	likely benign
rs757470622	19:6,678,316	G/A	—	likely benign
rs770608025	19:6,678,369	G/A	—	likely benign
rs573658918	19:6,678,376	G/C	—	likely benign
rs2512225009	19:6,678,378	C/T	—	uncertain significance
rs761242068	19:6,678,390	G/A	—	likely benign
rs139381845	19:6,678,430	T/C	—	uncertain significance
rs542668902	19:6,678,432	G/C	—	likely benign
rs752668279	19:6,678,435	C/T	—	likely benign
rs2512225133	19:6,678,442	A/C	—	uncertain significance
rs149202905	19:6,678,452	G/A	—	conflicting classifications of pathogenicity
rs2512225180	19:6,678,456	G/T	—	likely benign
rs189948635	19:6,678,462	G/A	—	likely benign
rs2512225206	19:6,678,466	A/G	—	uncertain significance
rs111595742	19:6,678,468	T/C	—	likely pathogenic
rs775109096	19:6,678,472	G/A	—	likely benign
rs11569565	19:6,678,474	A/G	—	benign
rs116302413	19:6,678,475	G/A	—	likely benign
rs11569562	19:6,678,753	A/G	regulatory region variant	benign
rs11569561	19:6,678,871	A/C	—	benign
rs1042405176	19:6,679,117	C/T	—	likely benign
rs748579533	19:6,679,124	T/C	—	likely benign
rs1362800698	19:6,679,189	T/C	—	uncertain significance
rs141010917	19:6,679,193	C/T	—	uncertain significance
rs377101999	19:6,679,196	C/G	—	uncertain significance
rs761625759	19:6,679,197	C/T	—	likely benign
rs758128289	19:6,679,205	G/C	—	uncertain significance
rs779812568	19:6,679,206	T/A	—	likely benign
rs1019532370	19:6,679,219	T/G	—	uncertain significance
rs1259984883	19:6,679,230	G/C	—	likely benign
rs1917795201	19:6,679,233	T/G	—	likely benign
rs1414347444	19:6,679,235	G/C	—	likely benign
rs344555	19:6,679,360	T/C	intron variant	benign
rs377076572	19:6,679,400	C/T	—	likely benign
rs754579424	19:6,679,401	G/A	—	likely benign
rs2512226381	19:6,679,410	G/A	—	likely benign
rs2512226396	19:6,679,421	C/G	—	uncertain significance
rs142868256	19:6,679,429	C/T	—	conflicting classifications of pathogenicity
rs1408701335	19:6,679,430	G/A	—	uncertain significance
rs756653877	19:6,679,440	A/T	—	uncertain significance
rs551187980	19:6,679,444	C/T	—	uncertain significance
rs1455241589	19:6,679,445	G/A	—	uncertain significance
rs749677615	19:6,679,451	G/A	—	uncertain significance
rs889838721	19:6,679,452	C/T	—	likely benign
rs779219365	19:6,679,479	C/T	—	likely benign

Showing 100 of 1,074 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.