C7

complement C7

Summary

This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]

Known Variants467 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3748105985:40,909,723G/C—uncertain significance
rs7580083105:40,909,734C/T—likely benign
rs7458074555:40,928,665T/C—likely benign
rs21115718905:40,928,680A/C—likely pathogenic
rs7697978505:40,928,684G/A—likely benign
rs8659770925:40,928,696C/A—uncertain significance
rs10568894705:40,928,714A/G—uncertain significance
rs7456094425:40,931,147C/T—likely benign
rs21115797665:40,931,159G/T—likely benign
rs10221940675:40,931,165G/A—pathogenic
rs13304332485:40,931,171C/T—uncertain significance
rs7800838505:40,931,179G/C—uncertain significance
rs3703353125:40,931,201A/G—uncertain significance
rs24781556185:40,931,205C/T—likely benign
rs12168384005:40,931,212T/C—uncertain significance
rs7738365615:40,931,222A/G—uncertain significance
rs12899741855:40,931,223T/A—uncertain significance
rs9376548795:40,931,224G/A—uncertain significance
rs783278325:40,931,237C/T—likely benign
rs13639555305:40,931,244A/G—uncertain significance
rs7672394315:40,931,253C/A—likely benign
rs1144615775:40,934,418T/C—benign
rs5357062685:40,934,424T/C—uncertain significance
rs412710635:40,934,428C/T—uncertain significance
rs1826531945:40,934,431G/A—uncertain significance
rs3766740185:40,934,436C/T—uncertain significance
rs3691284455:40,934,437G/A—uncertain significance
rs14712341645:40,934,442G/A—uncertain significance
rs5722965905:40,934,446C/T—uncertain significance
rs3712889215:40,934,450G/A—likely benign
rs12885394785:40,934,459G/A—likely benign
rs3690914185:40,934,463G/A—uncertain significance
rs21115907595:40,934,464G/A—uncertain significance
rs341965265:40,934,471A/G—benign
rs21115908285:40,934,472C/G—uncertain significance
rs1888492915:40,934,479T/C—uncertain significance
rs12986558675:40,934,504C/G—likely benign
rs7702529215:40,934,513T/G—likely benign
rs412710615:40,934,517A/G—uncertain significance
rs15798475825:40,934,530C/T—uncertain significance
rs341190615:40,934,549G/A—likely benign
rs1924396965:40,934,550C/T—uncertain significance
rs3774962905:40,934,558G/A—likely benign
rs7592859605:40,934,569G/A—likely pathogenic
rs3704470395:40,934,575T/C—likely benign
rs7526868295:40,934,584T/C—likely benign
rs12013083035:40,936,421G/C—likely benign
rs770657835:40,936,432G/C—likely benign
rs3747342635:40,936,437C/T—uncertain significance
rs5311035465:40,936,439G/Tsplice region variantpathogenic
rs24781682265:40,936,447C/T—likely benign
rs5495681395:40,936,448A/G—uncertain significance
rs10312475375:40,936,450C/T—likely benign
rs7496167565:40,936,462G/C—uncertain significance
rs3687084355:40,936,474G/C—likely benign
rs3713340615:40,936,480T/C—likely benign
rs7627769405:40,936,511A/G—uncertain significance
rs12780871025:40,936,522C/T—likely benign
rs24781685935:40,936,534A/C—uncertain significance
rs3680831435:40,936,535C/A—uncertain significance
rs12106953925:40,936,537T/C—likely benign
rs22717085:40,936,541C/T—benign
rs9832218335:40,936,546T/C—likely benign
rs3760568835:40,936,549C/T—likely benign
rs7554395535:40,936,550G/A—conflicting classifications of pathogenicity
rs24781687855:40,936,579T/C—likely benign
rs15612433835:40,936,588G/A—likely pathogenic
rs3697456385:40,936,595G/A—likely benign
rs3736202165:40,936,596C/T—likely benign
rs3758919365:40,936,604C/T—likely benign
rs7734532175:40,936,605C/G—likely benign
rs7665432385:40,936,607C/T—likely benign
rs12444477755:40,937,634C/T—likely benign
rs5547424175:40,937,637C/T—likely benign
rs9262463415:40,937,640C/A—likely benign
rs9376775305:40,937,644C/T—likely benign
rs13590849625:40,937,652A/T—likely pathogenic
rs7801194605:40,937,657C/T—benign
rs7767826055:40,937,659A/G—uncertain significance
rs13580087315:40,937,669T/C—likely benign
rs3774488275:40,937,670G/C—uncertain significance
rs12252430055:40,937,673C/T—pathogenic
rs7644313635:40,937,714T/C—likely benign
rs21116007095:40,937,761T/C—uncertain significance
rs17398455295:40,937,765T/G—uncertain significance
rs7768726765:40,937,775C/T—likely benign
rs7758401765:40,937,793G/A—likely pathogenic
rs3771585145:40,937,800C/T—likely benign
rs3708311795:40,937,803C/T—likely benign
rs7623324975:40,937,804G/A—likely benign
rs9756586615:40,945,280A/G—likely benign
rs7777230885:40,945,292C/T—likely benign
rs12443743015:40,945,296G/T—likely benign
rs9073750635:40,945,306A/T—uncertain significance
rs14267903595:40,945,313A/G—uncertain significance
rs3745038865:40,945,322A/G—uncertain significance
rs24781873905:40,945,323T/A—uncertain significance
rs5744132505:40,945,329A/T—uncertain significance
rs1995876305:40,945,337A/G—uncertain significance
rs7699845705:40,945,346G/A—pathogenic

Showing 100 of 467 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.