CFHR1
complement factor H related 1
Summary
This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]
Known Variants83 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs541933167 | 1:196,788,600 | A/G | — | benign |
| rs1498322 | 1:196,788,601 | C/T | — | benign |
| rs552435179 | 1:196,788,702 | A/C | — | benign |
| rs9427632 | 1:196,789,161 | C/G | — | benign |
| rs424772 | 1:196,789,200 | A/G | — | benign |
| rs10754204 | 1:196,792,975 | G/T | intron variant | — |
| rs416726 | 1:196,794,426 | G/C | — | benign |
| rs111886512 | 1:196,794,446 | G/A | — | benign |
| rs442759 | 1:196,794,519 | C/T | — | benign |
| rs113307454 | 1:196,794,593 | T/C | — | conflicting classifications of pathogenicity |
| rs750501937 | 1:196,794,640 | G/C | — | uncertain significance |
| rs146147352 | 1:196,794,678 | C/T | — | uncertain significance |
| rs138970064 | 1:196,794,681 | G/T | — | likely benign |
| rs758984798 | 1:196,794,687 | A/G | — | uncertain significance |
| rs1655291289 | 1:196,794,706 | A/C | — | uncertain significance |
| rs41305054 | 1:196,794,743 | A/C | — | likely benign |
| rs780177916 | 1:196,794,749 | G/T | — | uncertain significance |
| rs2529715079 | 1:196,794,750 | A/G | — | uncertain significance |
| rs1455233012 | 1:196,794,756 | A/G | — | uncertain significance |
| rs199672226 | 1:196,794,765 | A/G | — | uncertain significance |
| rs372075 | 1:196,794,867 | G/A | — | benign |
| rs409549 | 1:196,794,909 | G/C | — | benign |
| rs409253 | 1:196,795,014 | G/A | — | benign |
| rs61818890 | 1:196,795,018 | T/G | — | benign |
| rs149539863 | 1:196,795,092 | G/A | — | benign |
| rs437504 | 1:196,795,741 | C/T | — | benign |
| rs424925 | 1:196,795,761 | C/G | — | benign |
| rs111662284 | 1:196,795,844 | C/T | — | benign |
| rs424722 | 1:196,795,849 | A/G | — | benign |
| rs145063408 | 1:196,796,015 | C/T | — | conflicting classifications of pathogenicity |
| rs2529718643 | 1:196,796,093 | G/T | — | uncertain significance |
| rs747847034 | 1:196,796,099 | C/T | — | uncertain significance |
| rs2124891244 | 1:196,796,132 | A/G | — | uncertain significance |
| rs399507 | 1:196,796,184 | G/A | — | benign |
| rs438781 | 1:196,796,240 | T/A | — | benign |
| rs432234 | 1:196,796,361 | C/T | — | benign |
| rs678400 | 1:196,797,044 | T/C | — | benign |
| rs677961 | 1:196,797,123 | C/T | — | benign |
| rs111851524 | 1:196,797,198 | A/G | — | conflicting classifications of pathogenicity |
| rs513729 | 1:196,797,204 | T/G | — | likely benign |
| rs111236855 | 1:196,797,216 | T/C | — | benign |
| rs425757 | 1:196,797,238 | C/T | — | benign |
| rs410232 | 1:196,797,244 | C/G | — | benign |
| rs388862 | 1:196,797,292 | G/C | — | benign |
| rs3201739 | 1:196,797,357 | A/G | — | benign |
| rs28369298 | 1:196,797,493 | T/C | — | benign |
| rs533506641 | 1:196,797,499 | G/T | — | likely benign |
| rs1738734 | 1:196,797,633 | T/G | — | benign |
| rs190883096 | 1:196,798,176 | G/A | — | likely benign |
| rs188416616 | 1:196,798,651 | T/G | — | likely benign |
| rs408519 | 1:196,799,433 | C/T | — | benign |
| rs190166981 | 1:196,799,485 | A/G | — | likely benign |
| rs112781585 | 1:196,799,540 | T/C | — | benign |
| rs781409951 | 1:196,799,665 | G/A | — | uncertain significance |
| rs1352485203 | 1:196,799,671 | G/A | — | uncertain significance |
| rs774499959 | 1:196,799,674 | G/A | — | uncertain significance |
| rs141553120 | 1:196,799,676 | C/T | — | likely benign |
| rs12406079 | 1:196,799,691 | G/A | — | benign |
| rs147253539 | 1:196,799,746 | C/G | — | benign |
| rs1655514497 | 1:196,799,749 | C/G | — | uncertain significance |
| rs375152528 | 1:196,799,788 | T/C | — | uncertain significance |
| rs140799744 | 1:196,799,813 | G/A | — | conflicting classifications of pathogenicity |
| rs1738733 | 1:196,799,848 | A/T | — | benign |
| rs1694447 | 1:196,799,849 | G/C | — | benign |
| rs73076053 | 1:196,799,951 | T/C | — | benign |
| rs411185 | 1:196,800,073 | T/C | — | benign |
| rs403802 | 1:196,800,103 | G/A | — | benign |
| rs181963459 | 1:196,800,889 | C/T | — | likely benign |
| rs762362507 | 1:196,800,910 | C/G | — | uncertain significance |
| rs758334830 | 1:196,800,935 | G/A | — | uncertain significance |
| rs368662175 | 1:196,800,945 | G/A | — | likely benign |
| rs769280099 | 1:196,800,971 | G/A | — | uncertain significance |
| rs200832275 | 1:196,801,005 | T/C | — | conflicting classifications of pathogenicity |
| rs16840561 | 1:196,801,023 | C/T | — | likely pathogenic |
| rs201995028 | 1:196,801,025 | G/A | — | conflicting classifications of pathogenicity |
| rs4230 | 1:196,801,042 | G/T | — | benign |
| rs1376009483 | 1:196,801,047 | A/G | — | uncertain significance |
| rs768332765 | 1:196,801,061 | C/T | — | uncertain significance |
| rs414628 | 1:196,801,078 | A/T | — | benign |
| rs761735318 | 1:196,801,091 | G/A | — | uncertain significance |
| rs145057542 | 1:196,801,128 | A/G | — | conflicting classifications of pathogenicity |
| rs390679 | 1:196,801,190 | C/A | — | benign |
| rs401332 | 1:196,801,321 | T/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.