CFI
complement factor I
Summary
This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]
Known Variants437 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13117504 | 4:110,658,856 | C/G | downstream gene variant | — |
| rs10033900 | 4:110,659,067 | T/C | downstream gene variant | — |
| rs186391417 | 4:110,659,919 | C/T | downstream gene variant | — |
| rs28361433 | 4:110,661,835 | T/C | — | benign |
| rs77449037 | 4:110,661,905 | A/G | — | benign |
| rs551 | 4:110,661,937 | G/A | — | benign |
| rs80173133 | 4:110,662,042 | C/A | — | likely benign |
| rs184356649 | 4:110,662,051 | A/G | — | uncertain significance |
| rs2545357331 | 4:110,662,062 | T/C | — | uncertain significance |
| rs760148430 | 4:110,662,068 | A/G | — | conflicting classifications of pathogenicity |
| rs549627228 | 4:110,662,075 | G/A | — | likely benign |
| rs776491901 | 4:110,662,085 | A/G | — | likely benign |
| rs200973120 | 4:110,662,092 | C/G | — | conflicting classifications of pathogenicity |
| rs750212263 | 4:110,662,101 | T/A | — | uncertain significance |
| rs1723711474 | 4:110,662,109 | A/T | — | uncertain significance |
| rs2545357550 | 4:110,662,118 | T/G | — | uncertain significance |
| rs754572081 | 4:110,662,140 | T/A | — | conflicting classifications of pathogenicity |
| rs113460688 | 4:110,662,144 | G/A | — | likely benign |
| rs1308386684 | 4:110,662,145 | T/C | — | likely benign |
| rs2545357700 | 4:110,662,157 | T/G | — | uncertain significance |
| rs771446070 | 4:110,662,158 | T/C | — | uncertain significance |
| rs7437875 | 4:110,662,159 | C/G | — | conflicting classifications of pathogenicity |
| rs2126178088 | 4:110,662,163 | C/T | — | likely pathogenic |
| rs121964915 | 4:110,662,164 | C/T | stop gained | risk factor |
| rs2126178100 | 4:110,662,166 | A/G | — | likely benign |
| rs747755806 | 4:110,662,177 | C/T | — | conflicting classifications of pathogenicity |
| rs1268486835 | 4:110,662,179 | C/T | — | conflicting classifications of pathogenicity |
| rs769602593 | 4:110,662,184 | A/G | — | likely benign |
| rs1228464893 | 4:110,662,200 | G/A | — | uncertain significance |
| rs1723730571 | 4:110,662,207 | T/C | — | uncertain significance |
| rs1723731778 | 4:110,662,218 | G/A | — | conflicting classifications of pathogenicity |
| rs181378677 | 4:110,662,220 | G/A | — | likely benign |
| rs1436775364 | 4:110,662,221 | C/A | — | conflicting classifications of pathogenicity |
| rs2126178203 | 4:110,662,223 | T/C | — | likely benign |
| rs2545358074 | 4:110,662,225 | C/A | — | conflicting classifications of pathogenicity |
| rs121964914 | 4:110,662,230 | T/A | missense variant | risk factor |
| rs1289756969 | 4:110,662,231 | C/A | — | uncertain significance |
| rs121964918 | 4:110,662,246 | C/T | missense variant | risk factor |
| rs767533323 | 4:110,662,247 | G/A | — | likely benign |
| rs145296508 | 4:110,662,253 | A/G | — | likely benign |
| rs764347930 | 4:110,662,254 | C/A | — | uncertain significance |
| rs754216955 | 4:110,662,259 | A/G | — | likely benign |
| rs1383097644 | 4:110,663,639 | G/A | — | likely benign |
| rs114013791 | 4:110,663,642 | C/A | — | likely benign |
| rs770828632 | 4:110,663,647 | C/T | — | conflicting classifications of pathogenicity |
| rs369715801 | 4:110,663,648 | T/C | — | uncertain significance |
| rs760801046 | 4:110,663,649 | G/A | — | uncertain significance |
| rs2545363324 | 4:110,663,652 | C/G | — | uncertain significance |
| rs968428003 | 4:110,663,657 | C/A | — | uncertain significance |
| rs886058982 | 4:110,663,665 | T/G | — | uncertain significance |
| rs887052529 | 4:110,663,669 | A/G | — | likely benign |
| rs927088953 | 4:110,663,676 | C/T | — | uncertain significance |
| rs764371341 | 4:110,663,677 | G/C | — | uncertain significance |
| rs558749473 | 4:110,663,683 | C/T | — | conflicting classifications of pathogenicity |
| rs2545363554 | 4:110,663,686 | A/G | — | uncertain significance |
| rs137886324 | 4:110,663,689 | A/G | — | uncertain significance |
| rs765472201 | 4:110,663,690 | C/G | — | uncertain significance |
| rs750850949 | 4:110,663,694 | G/A | — | likely pathogenic |
| rs758942583 | 4:110,663,695 | A/G | — | uncertain significance |
| rs780759494 | 4:110,663,702 | G/T | — | uncertain significance |
| rs2545363663 | 4:110,663,705 | T/C | — | uncertain significance |
| rs200025458 | 4:110,663,707 | T/G | — | uncertain significance |
| rs1458122971 | 4:110,663,711 | T/A | — | uncertain significance |
| rs376327484 | 4:110,663,716 | C/T | — | uncertain significance |
| rs2126180592 | 4:110,663,717 | T/C | — | likely benign |
| rs1723935478 | 4:110,663,720 | A/G | — | likely benign |
| rs1723935867 | 4:110,663,723 | C/T | — | likely pathogenic |
| rs114091883 | 4:110,663,738 | G/A | — | likely benign |
| rs200936562 | 4:110,663,745 | T/C | — | uncertain significance |
| rs1723942602 | 4:110,663,746 | C/T | — | uncertain significance |
| rs775471796 | 4:110,663,747 | G/A | — | likely benign |
| rs377117137 | 4:110,663,770 | C/T | — | likely benign |
| rs78571767 | 4:110,663,864 | G/A | — | benign |
| rs6821803 | 4:110,663,997 | T/C | — | benign |
| rs6822976 | 4:110,666,292 | G/A | intron variant | — |
| rs9998151 | 4:110,667,345 | T/C | — | benign |
| rs753424289 | 4:110,667,362 | A/G | — | likely benign |
| rs184313022 | 4:110,667,370 | A/G | — | likely benign |
| rs1561285086 | 4:110,667,371 | C/T | — | likely benign |
| rs771786368 | 4:110,667,373 | T/C | — | uncertain significance |
| rs368555424 | 4:110,667,377 | C/G | — | pathogenic |
| rs754972981 | 4:110,667,378 | C/G | — | conflicting classifications of pathogenicity |
| rs765956155 | 4:110,667,386 | C/T | — | conflicting classifications of pathogenicity |
| rs121964913 | 4:110,667,387 | G/A | stop gained | pathogenic |
| rs2545375332 | 4:110,667,392 | C/T | — | pathogenic |
| rs200068862 | 4:110,667,397 | A/G | — | benign |
| rs763276049 | 4:110,667,402 | C/T | — | uncertain significance |
| rs1403155452 | 4:110,667,405 | T/C | — | uncertain significance |
| rs1724402529 | 4:110,667,408 | A/G | — | conflicting classifications of pathogenicity |
| rs2545375506 | 4:110,667,410 | G/C | — | uncertain significance |
| rs759927335 | 4:110,667,415 | A/T | — | uncertain significance |
| rs143827877 | 4:110,667,421 | T/A | — | likely benign |
| rs2545375580 | 4:110,667,423 | G/A | — | likely pathogenic |
| rs886058983 | 4:110,667,426 | A/G | — | uncertain significance |
| rs1336241963 | 4:110,667,427 | T/C | — | likely benign |
| rs1026187949 | 4:110,667,429 | G/A | — | likely benign |
| rs1231423936 | 4:110,667,430 | G/A | — | likely benign |
| rs989210294 | 4:110,667,431 | T/G | — | conflicting classifications of pathogenicity |
| rs1724409128 | 4:110,667,432 | A/G | — | uncertain significance |
| rs1343020448 | 4:110,667,435 | G/C | — | uncertain significance |
Showing 100 of 437 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.