C8A

complement C8 alpha chain

Summary

C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]

Known Variants319 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1643958363	1:57,320,587	G/T	—	uncertain significance
rs1643958562	1:57,320,597	T/A	—	uncertain significance
rs192696675	1:57,320,600	T/C	—	uncertain significance
rs768812752	1:57,320,626	G/A	—	uncertain significance
rs1487247262	1:57,320,627	T/C	—	uncertain significance
rs1643959065	1:57,320,628	A/G	—	likely benign
rs774621470	1:57,320,634	A/T	—	likely benign
rs2522454487	1:57,320,656	G/C	—	uncertain significance
rs369518355	1:57,320,667	G/A	—	likely benign
rs1025368504	1:57,333,272	C/T	—	likely benign
rs759882349	1:57,333,292	C/G	—	uncertain significance
rs201955480	1:57,333,293	G/A	—	uncertain significance
rs573892177	1:57,333,296	C/A	—	uncertain significance
rs143523574	1:57,333,304	C/T	—	likely benign
rs201034819	1:57,333,307	G/A	—	conflicting classifications of pathogenicity
rs116201358	1:57,333,311	C/T	—	uncertain significance
rs34047108	1:57,333,312	G/A	—	benign
rs267598666	1:57,333,325	C/T	—	likely benign
rs2522491093	1:57,333,335	G/A	—	pathogenic
rs145271399	1:57,333,351	T/C	—	likely benign
rs200247116	1:57,333,359	C/T	—	uncertain significance
rs202216337	1:57,333,360	G/A	—	likely benign
rs2101200553	1:57,333,362	G/C	—	uncertain significance
rs370982052	1:57,333,369	C/A	—	likely benign
rs2522491339	1:57,333,374	A/C	—	uncertain significance
rs775967055	1:57,333,376	G/T	—	likely pathogenic
rs781283546	1:57,333,382	C/T	—	likely benign
rs189841210	1:57,333,383	A/G	—	likely benign
rs2101200646	1:57,333,384	C/G	—	likely benign
rs367618723	1:57,333,393	G/A	—	likely benign
rs146283948	1:57,339,653	G/A	intron variant	—
rs2101216608	1:57,340,606	T/G	—	likely benign
rs745908825	1:57,340,616	G/A	—	likely benign
rs770385213	1:57,340,620	A/G	—	likely pathogenic
rs1332885313	1:57,340,625	C/T	—	pathogenic
rs369702409	1:57,340,626	G/A	—	benign
rs199851888	1:57,340,632	G/A	—	uncertain significance
rs147022920	1:57,340,643	C/A	—	uncertain significance
rs776244708	1:57,340,655	T/G	—	uncertain significance
rs2101216851	1:57,340,681	C/A	—	uncertain significance
rs557450862	1:57,340,683	T/G	—	uncertain significance
rs2101216885	1:57,340,690	T/C	—	likely benign
rs751849612	1:57,340,695	C/A	—	uncertain significance
rs652785	1:57,340,727	C/A	missense variant	benign
rs779209088	1:57,340,734	A/C	—	uncertain significance
rs748481316	1:57,340,736	T/G	—	uncertain significance
rs2522515807	1:57,340,737	G/A	—	uncertain significance
rs2101217268	1:57,340,761	A/G	—	uncertain significance
rs764008804	1:57,340,769	G/A	—	uncertain significance
rs1037580993	1:57,340,770	A/G	—	uncertain significance
rs751452678	1:57,340,773	A/G	—	likely benign
rs116251949	1:57,340,774	G/A	—	likely benign
rs2101219252	1:57,341,718	C/T	—	likely benign
rs756435034	1:57,341,724	C/G	—	likely benign
rs139141074	1:57,341,737	C/T	—	uncertain significance
rs746135003	1:57,341,742	C/T	—	likely benign
rs772455324	1:57,341,749	C/T	—	uncertain significance
rs199746178	1:57,341,751	C/T	—	likely benign
rs562746756	1:57,341,765	A/G	—	uncertain significance
rs758800749	1:57,341,771	A/G	—	uncertain significance
rs187691037	1:57,341,775	G/A	—	likely benign
rs778013584	1:57,341,779	T/G	—	uncertain significance
rs1644196025	1:57,341,781	C/T	—	likely benign
rs376825198	1:57,341,787	T/A	—	uncertain significance
rs199940145	1:57,341,799	G/A	—	likely benign
rs760688012	1:57,341,802	C/T	—	likely benign
rs150404785	1:57,341,803	G/A	—	likely benign
rs1644196490	1:57,341,819	G/T	—	uncertain significance
rs772921534	1:57,341,822	C/T	—	likely benign
rs766644316	1:57,341,829	C/T	—	likely benign
rs2522519733	1:57,341,835	C/T	—	likely benign
rs2522519786	1:57,341,844	G/C	—	uncertain significance
rs777074787	1:57,341,860	G/C	—	uncertain significance
rs764626828	1:57,341,863	T/C	—	uncertain significance
rs942938055	1:57,341,872	G/A	—	uncertain significance
rs751915075	1:57,341,876	C/T	—	uncertain significance
rs779861616	1:57,341,880	G/A	—	likely benign
rs544835564	1:57,341,892	T/C	—	likely benign
rs149171325	1:57,341,893	G/T	—	benign
rs747665165	1:57,341,901	G/A	—	likely benign
rs558262759	1:57,347,113	T/C	—	likely benign
rs1464920776	1:57,347,114	G/T	—	likely benign
rs369725525	1:57,347,118	G/T	—	uncertain significance
rs1246596970	1:57,347,121	C/T	—	likely benign
rs1026156112	1:57,347,127	C/T	—	likely benign
rs746890898	1:57,347,128	C/T	—	likely benign
rs1570328685	1:57,347,130	G/A	—	likely benign
rs2101232145	1:57,347,131	A/G	—	uncertain significance
rs1346687933	1:57,347,132	C/T	—	uncertain significance
rs1644246557	1:57,347,133	C/A	—	likely benign
rs2522534908	1:57,347,135	A/G	—	uncertain significance
rs1644246627	1:57,347,146	C/T	—	pathogenic
rs2522534953	1:57,347,151	T/C	—	likely benign
rs374176234	1:57,347,152	G/A	—	uncertain significance
rs376646572	1:57,347,155	T/C	—	uncertain significance
rs777567965	1:57,347,157	C/T	—	likely benign
rs142909304	1:57,347,171	A/T	—	uncertain significance
rs761109115	1:57,347,178	C/T	—	likely benign
rs373330966	1:57,347,181	G/A	—	likely benign
rs377066181	1:57,347,187	G/A	—	likely benign

Showing 100 of 319 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.