C8B

complement C8 beta chain

Summary

This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

Known Variants321 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs618184	1:57,394,731	A/G	downstream gene variant	—
rs1644662055	1:57,395,081	G/A	—	uncertain significance
rs143486016	1:57,395,083	G/A	—	likely benign
rs752783592	1:57,395,086	G/C	—	uncertain significance
rs1397225410	1:57,395,092	T/C	—	likely benign
rs201800989	1:57,395,107	G/A	—	likely benign
rs139167053	1:57,395,114	C/A	—	uncertain significance
rs777890753	1:57,395,128	A/G	—	likely benign
rs190080984	1:57,395,130	T/C	—	uncertain significance
rs1425612647	1:57,395,134	A/G	—	likely benign
rs1644663610	1:57,395,136	G/A	—	uncertain significance
rs149900569	1:57,395,137	A/C	—	likely benign
rs775719725	1:57,395,141	G/A	—	uncertain significance
rs2522661105	1:57,395,164	T/C	—	likely benign
rs1362333849	1:57,395,170	A/G	—	likely benign
rs774382351	1:57,395,171	C/T	—	uncertain significance
rs567887687	1:57,395,172	G/A	—	uncertain significance
rs764821136	1:57,395,196	T/C	—	uncertain significance
rs752357132	1:57,395,200	C/T	—	uncertain significance
rs757959349	1:57,395,210	C/T	—	uncertain significance
rs2101343704	1:57,395,211	A/C	—	uncertain significance
rs777478006	1:57,395,212	C/G	—	uncertain significance
rs746509547	1:57,395,225	G/T	—	uncertain significance
rs781205603	1:57,395,227	G/C	—	likely benign
rs61737417	1:57,395,228	G/A	—	likely benign
rs371789315	1:57,395,231	T/C	—	uncertain significance
rs749563397	1:57,395,234	A/G	—	uncertain significance
rs945582755	1:57,395,235	T/C	—	likely benign
rs773721786	1:57,395,248	C/T	—	likely benign
rs605648	1:57,395,251	T/C	—	benign
rs684782	1:57,397,082	C/T	intron variant	—
rs1264896528	1:57,397,470	C/T	—	likely benign
rs867004391	1:57,397,484	C/G	—	uncertain significance
rs2522671121	1:57,397,486	T/A	—	uncertain significance
rs530148306	1:57,397,488	C/T	—	uncertain significance
rs773136580	1:57,397,489	G/A	—	uncertain significance
rs143417649	1:57,397,497	A/T	—	uncertain significance
rs377623911	1:57,397,498	C/T	—	conflicting classifications of pathogenicity
rs759908742	1:57,397,505	G/A	—	likely benign
rs141962576	1:57,397,506	G/C	—	uncertain significance
rs1174320543	1:57,397,513	C/T	—	uncertain significance
rs749877724	1:57,397,527	G/A	—	uncertain significance
rs779852251	1:57,397,545	C/T	—	uncertain significance
rs778114966	1:57,397,546	G/A	—	uncertain significance
rs1557725222	1:57,397,553	T/C	—	likely pathogenic
rs748411642	1:57,397,565	G/A	—	likely benign
rs612563	1:57,397,738	G/A	—	—
rs192670868	1:57,397,932	C/A	intron variant	—
rs668451	1:57,398,378	C/T	intron variant	—
rs150123331	1:57,398,952	C/T	intron variant	—
rs1394604123	1:57,399,006	A/G	—	likely pathogenic
rs1176902020	1:57,399,036	G/T	—	pathogenic
rs1644729811	1:57,399,055	G/T	—	uncertain significance
rs1644729935	1:57,399,058	C/G	—	uncertain significance
rs2101357396	1:57,399,062	C/T	—	uncertain significance
rs200245622	1:57,399,068	T/C	—	uncertain significance
rs2101357545	1:57,399,094	A/C	—	uncertain significance
rs2101357571	1:57,399,097	T/C	—	uncertain significance
rs140570606	1:57,399,102	C/T	—	likely benign
rs776057562	1:57,399,115	G/A	—	uncertain significance
rs373866445	1:57,399,118	T/C	—	uncertain significance
rs924523629	1:57,399,122	C/T	—	uncertain significance
rs554618167	1:57,399,123	A/T	—	likely benign
rs760262006	1:57,399,146	C/T	—	uncertain significance
rs142870813	1:57,399,155	G/A	—	uncertain significance
rs2522678967	1:57,399,173	A/G	—	likely benign
rs764403758	1:57,399,177	G/A	—	likely benign
rs684216	1:57,403,803	C/G	intron variant	—
rs2522707378	1:57,406,504	T/C	—	likely benign
rs376529113	1:57,406,509	C/G	—	likely benign
rs116348786	1:57,406,513	G/A	—	conflicting classifications of pathogenicity
rs373203493	1:57,406,516	G/A	—	likely benign
rs1644841427	1:57,406,537	G/T	—	likely benign
rs757480558	1:57,406,538	G/C	—	uncertain significance
rs2101385310	1:57,406,539	C/A	—	uncertain significance
rs750536393	1:57,406,545	T/G	—	uncertain significance
rs749798944	1:57,406,555	A/G	—	likely benign
rs41285942	1:57,406,556	G/A	—	uncertain significance
rs201806369	1:57,406,557	C/T	—	uncertain significance
rs1644842359	1:57,406,563	C/G	—	uncertain significance
rs200077558	1:57,406,565	C/T	—	pathogenic
rs2101385559	1:57,406,569	C/A	—	pathogenic
rs199673976	1:57,406,582	C/T	—	likely benign
rs768628189	1:57,406,585	C/T	—	likely benign
rs138837336	1:57,406,586	G/A	—	uncertain significance
rs750634264	1:57,406,588	C/T	—	likely benign
rs371378397	1:57,406,589	G/A	—	uncertain significance
rs1557730784	1:57,406,594	C/T	—	likely benign
rs766613171	1:57,406,598	T/C	—	uncertain significance
rs2522708813	1:57,406,613	G/C	—	uncertain significance
rs942930014	1:57,406,630	C/G	—	likely benign
rs856841	1:57,406,633	T/G	—	benign
rs199592536	1:57,406,637	C/T	—	uncertain significance
rs41286844	1:57,406,638	G/A	stop gained	pathogenic
rs760338411	1:57,406,644	G/A	—	likely benign
rs370269698	1:57,406,652	A/G	—	uncertain significance
rs1434285462	1:57,406,655	T/G	—	uncertain significance
rs374700138	1:57,406,685	T/C	—	uncertain significance
rs111404913	1:57,406,688	G/A	—	uncertain significance
rs529115326	1:57,406,694	G/T	—	likely benign

Showing 100 of 321 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.