CFHR3
complement factor H related 3
Summary
The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369561 | 1:196,743,826 | T/G | — | benign |
| rs385390 | 1:196,743,927 | C/A | — | benign |
| rs446868 | 1:196,743,964 | C/A | — | benign |
| rs60627815 | 1:196,744,026 | C/T | — | benign |
| rs766958751 | 1:196,744,030 | T/C | — | uncertain significance |
| rs1359238447 | 1:196,744,043 | G/A | — | likely benign |
| rs140313679 | 1:196,744,069 | G/C | — | likely benign |
| rs533463305 | 1:196,744,079 | G/A | — | likely benign |
| rs191734103 | 1:196,744,082 | A/G | — | likely benign |
| rs61737523 | 1:196,748,334 | T/G | — | likely benign |
| rs748096320 | 1:196,748,339 | G/T | — | uncertain significance |
| rs143890724 | 1:196,748,348 | C/T | — | uncertain significance |
| rs377742193 | 1:196,748,349 | G/A | — | conflicting classifications of pathogenicity |
| rs752063858 | 1:196,748,390 | T/C | — | uncertain significance |
| rs1271359305 | 1:196,748,394 | A/G | — | uncertain significance |
| rs148709851 | 1:196,748,442 | T/C | — | uncertain significance |
| rs373258103 | 1:196,748,468 | C/T | — | uncertain significance |
| rs620015 | 1:196,748,676 | A/G | — | benign |
| rs116375156 | 1:196,748,972 | A/G | — | likely benign |
| rs755529526 | 1:196,748,973 | T/C | — | likely benign |
| rs1573108803 | 1:196,748,979 | A/G | — | likely benign |
| rs144398879 | 1:196,749,027 | C/A | — | uncertain significance |
| rs184061405 | 1:196,749,028 | G/C | — | uncertain significance |
| rs751334760 | 1:196,749,029 | G/C | — | uncertain significance |
| rs541663285 | 1:196,749,086 | C/T | — | uncertain significance |
| rs61737525 | 1:196,749,097 | C/T | — | benign |
| rs190808782 | 1:196,755,263 | G/A | intron variant | — |
| rs401188 | 1:196,757,083 | C/T | — | benign |
| rs390154 | 1:196,757,093 | A/C | — | benign |
| rs400642 | 1:196,757,258 | C/T | — | benign |
| rs400344 | 1:196,757,392 | C/T | — | benign |
| rs1403923287 | 1:196,757,409 | A/T | — | uncertain significance |
| rs147012038 | 1:196,757,515 | A/T | — | uncertain significance |
| rs138839071 | 1:196,757,530 | T/C | — | conflicting classifications of pathogenicity |
| rs1025391338 | 1:196,757,933 | T/C | — | likely benign |
| rs1292267521 | 1:196,759,213 | A/T | — | uncertain significance |
| rs149347641 | 1:196,759,281 | G/C | — | benign |
| rs138675433 | 1:196,759,282 | C/T | — | likely benign |
| rs1432449271 | 1:196,759,288 | T/G | — | uncertain significance |
| rs369359160 | 1:196,759,314 | A/G | — | likely benign |
| rs754726162 | 1:196,759,317 | A/T | — | likely benign |
| rs748017378 | 1:196,759,337 | C/T | — | uncertain significance |
| rs149352569 | 1:196,759,347 | A/T | — | benign |
| rs376975192 | 1:196,759,357 | C/T | — | likely benign |
| rs370108606 | 1:196,759,358 | G/A | — | uncertain significance |
| rs200264114 | 1:196,759,379 | T/A | — | benign |
| rs760772571 | 1:196,760,129 | A/T | — | likely benign |
| rs426736 | 1:196,760,417 | A/T | — | — |
| rs398771 | 1:196,762,257 | T/C | — | benign |
| rs387000 | 1:196,762,302 | C/A | — | benign |
| rs187588824 | 1:196,762,383 | G/T | — | likely benign |
| rs745503234 | 1:196,762,453 | G/T | — | likely benign |
| rs139520520 | 1:196,762,455 | A/G | — | likely benign |
| rs774681022 | 1:196,762,472 | C/A | — | uncertain significance |
| rs2529661426 | 1:196,762,482 | A/G | — | uncertain significance |
| rs377447533 | 1:196,762,491 | A/C | — | likely benign |
| rs765053679 | 1:196,762,494 | T/G | — | uncertain significance |
| rs779802528 | 1:196,762,540 | C/T | — | uncertain significance |
| rs779487544 | 1:196,762,564 | G/A | — | uncertain significance |
| rs773132269 | 1:196,762,574 | A/G | — | likely benign |
| rs73073594 | 1:196,762,584 | A/T | — | likely benign |
| rs145280059 | 1:196,762,608 | C/A | — | likely benign |
| rs779855453 | 1:196,762,609 | G/A | — | uncertain significance |
| rs149081467 | 1:196,762,616 | G/C | — | likely benign |
| rs372994316 | 1:196,762,638 | G/A | — | uncertain significance |
| rs391503 | 1:196,762,908 | G/C | — | benign |
| rs55669077 | 1:196,762,973 | T/C | 3 prime UTR variant | — |
| rs431408 | 1:196,764,663 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.