CFH

complement factor H

Summary

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

Known Variants809 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5051021:196,619,502T/Cupstream gene variant—
rs37533941:196,620,917C/Tregulatory region variantbenign
rs11671917851:196,620,929A/C—likely benign
rs748428241:196,620,941C/T—benign
rs358364601:196,621,053T/C—benign
rs7621434571:196,621,073T/C—uncertain significance
rs5274445151:196,621,124G/T—likely benign
rs359061101:196,621,169A/G—likely benign
rs8860457411:196,621,187A/G—uncertain significance
rs1403567021:196,621,212G/C—likely benign
rs1847731141:196,621,229C/T—uncertain significance
rs1422665511:196,621,252G/C—uncertain significance
rs1392544231:196,621,254C/G—conflicting classifications of pathogenicity
rs13055217991:196,621,258T/C—uncertain significance
rs25292837301:196,621,261C/T—uncertain significance
rs7498750531:196,621,263A/G—conflicting classifications of pathogenicity
rs16665205601:196,621,279T/C—uncertain significance
rs7796709351:196,621,280G/T—uncertain significance
rs25292838171:196,621,282T/C—uncertain significance
rs7688743091:196,621,291T/C—conflicting classifications of pathogenicity
rs25292838591:196,621,296G/A—uncertain significance
rs13088265801:196,621,297T/G—uncertain significance
rs7793005781:196,621,299G/T—uncertain significance
rs15532704371:196,621,305G/A—uncertain significance
rs16665222761:196,621,306G/T—likely pathogenic
rs25292839001:196,621,310G/T—uncertain significance
rs7725738091:196,621,311A/C—uncertain significance
rs25292839281:196,621,321A/G—likely benign
rs7713342911:196,621,324C/T—likely benign
rs557473511:196,621,455T/C—benign
rs5209921:196,621,509T/A—benign
rs75247761:196,623,337T/Cintron variant—
rs5298251:196,635,106G/Aintron variant—
rs66601001:196,635,682C/Tintron variant—
rs5145911:196,640,320A/Gintron variant—
rs5513971:196,642,072C/Tintron variantbenign
rs7655587061:196,642,088T/G—likely benign
rs2010673741:196,642,092T/C—likely benign
rs15730087941:196,642,098T/G—uncertain significance
rs7674944111:196,642,114A/G—uncertain significance
rs7549328011:196,642,116G/A—uncertain significance
rs15581542281:196,642,118A/G—likely benign
rs25293291711:196,642,122C/T—uncertain significance
rs25293292571:196,642,144T/A—uncertain significance
rs13898977061:196,642,149A/T—uncertain significance
rs8860457421:196,642,152G/A—uncertain significance
rs25293293631:196,642,165A/G—uncertain significance
rs11927173261:196,642,171C/T—uncertain significance
rs12612734411:196,642,172A/G—likely benign
rs1827504991:196,642,174A/T—uncertain significance
rs25293294341:196,642,182G/A—uncertain significance
rs7784618861:196,642,185A/G—uncertain significance
rs12673954471:196,642,187C/G—likely benign
rs11608209291:196,642,192C/T—uncertain significance
rs7475461211:196,642,194A/G—uncertain significance
rs25293295031:196,642,195T/C—uncertain significance
rs25293295081:196,642,199T/C—likely benign
rs7577851491:196,642,206C/T—pathogenic
rs9763330151:196,642,207G/A—conflicting classifications of pathogenicity
rs7811444361:196,642,208C/G—likely benign
rs16673377151:196,642,212G/A—uncertain significance
rs1413366811:196,642,221T/G—conflicting classifications of pathogenicity
rs16673381641:196,642,225T/C—uncertain significance
rs12309175281:196,642,232T/C—likely benign
rs8002921:196,642,233G/Amissense variantbenign
rs7718865801:196,642,244A/T—uncertain significance
rs7606191011:196,642,254G/C—uncertain significance
rs12106742611:196,642,262G/A—pathogenic
rs7662411951:196,642,263G/A—uncertain significance
rs14315404961:196,642,267C/T—uncertain significance
rs7760755951:196,642,268T/C—likely benign
rs3688351711:196,642,269C/G—uncertain significance
rs14396838651:196,642,272A/C—uncertain significance
rs7648494971:196,642,274T/C—likely benign
rs16673412551:196,642,284A/G—uncertain significance
rs13133448421:196,642,286A/G—likely benign
rs7817196571:196,642,312T/C—likely benign
rs5593501:196,642,533T/Cintron variant—
rs7750883661:196,642,970T/A—likely benign
rs2000791721:196,642,972T/C—conflicting classifications of pathogenicity
rs7637732481:196,642,975T/A—likely benign
rs5371606021:196,642,979C/T—likely benign
rs358149001:196,642,980G/A—likely benign
rs13118149911:196,642,986G/C—pathogenic
rs3763370601:196,642,987A/G—uncertain significance
rs12396958991:196,643,011A/G—conflicting classifications of pathogenicity
rs25293328511:196,643,012T/C—likely benign
rs7715272141:196,643,014C/G—uncertain significance
rs10383746701:196,643,015T/A—likely benign
rs8860457431:196,643,017C/T—uncertain significance
rs12545105831:196,643,018T/A—likely benign
rs7545910611:196,643,026C/A—uncertain significance
rs1481826251:196,643,027T/C—conflicting classifications of pathogenicity
rs12919826871:196,643,042A/G—likely benign
rs14487520911:196,643,060T/C—likely benign
rs5768198231:196,643,074T/A—uncertain significance
rs7468582891:196,643,075G/T—likely benign
rs7707307731:196,643,078T/C—likely benign
rs1857639581:196,643,090G/A—likely benign
rs21490782971:196,643,091G/A—uncertain significance

Showing 100 of 809 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

CFH — complement factor H — genewizard.net