CFHR4
complement factor H related 4
Summary
This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]
Known Variants88 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7413610 | 1:196,855,689 | G/C | — | — |
| rs370026617 | 1:196,857,321 | C/A | — | uncertain significance |
| rs373860833 | 1:196,857,324 | G/T | — | uncertain significance |
| rs528151798 | 1:196,858,560 | G/A | — | — |
| rs12734260 | 1:196,865,417 | G/T | intron variant | — |
| rs6685931 | 1:196,867,233 | T/C | intron variant | — |
| rs189247222 | 1:196,867,763 | A/C | intron variant | — |
| rs78624607 | 1:196,871,551 | T/C | — | likely benign |
| rs1208316630 | 1:196,871,557 | C/T | — | uncertain significance |
| rs138792300 | 1:196,871,592 | T/C | — | likely benign |
| rs200339924 | 1:196,871,607 | C/T | — | conflicting classifications of pathogenicity |
| rs200977143 | 1:196,871,608 | G/A | — | uncertain significance |
| rs202234955 | 1:196,871,617 | A/T | — | likely benign |
| rs78951215 | 1:196,871,648 | C/T | — | likely benign |
| rs185240845 | 1:196,871,674 | C/T | — | conflicting classifications of pathogenicity |
| rs201480125 | 1:196,871,693 | G/A | — | uncertain significance |
| rs145744152 | 1:196,871,717 | T/C | — | likely benign |
| rs77556138 | 1:196,871,732 | G/A | — | likely benign |
| rs150254054 | 1:196,874,258 | G/A | — | likely benign |
| rs762023676 | 1:196,874,295 | C/G | — | uncertain significance |
| rs193093149 | 1:196,874,329 | T/A | — | likely benign |
| rs1657846108 | 1:196,874,352 | C/A | — | uncertain significance |
| rs10801578 | 1:196,874,356 | G/T | — | benign |
| rs779625743 | 1:196,874,394 | G/T | — | uncertain significance |
| rs1167395966 | 1:196,875,980 | T/C | — | likely benign |
| rs907949711 | 1:196,876,027 | C/T | — | uncertain significance |
| rs775770425 | 1:196,876,112 | C/T | — | likely benign |
| rs199731883 | 1:196,876,147 | C/T | — | conflicting classifications of pathogenicity |
| rs1361851317 | 1:196,876,163 | C/G | — | uncertain significance |
| rs758872040 | 1:196,876,165 | A/G | — | uncertain significance |
| rs34175798 | 1:196,876,434 | A/C | — | benign |
| rs115298512 | 1:196,876,446 | A/G | — | conflicting classifications of pathogenicity |
| rs7417769 | 1:196,876,458 | A/G | — | benign |
| rs554389553 | 1:196,876,459 | C/G | — | likely benign |
| rs1427016698 | 1:196,876,483 | C/A | — | uncertain significance |
| rs1302065882 | 1:196,876,497 | C/T | — | uncertain significance |
| rs116119247 | 1:196,876,528 | G/C | — | likely benign |
| rs749078259 | 1:196,876,529 | T/A | — | uncertain significance |
| rs756672394 | 1:196,876,542 | A/C | — | uncertain significance |
| rs748872724 | 1:196,876,572 | G/T | — | uncertain significance |
| rs2526547757 | 1:196,876,595 | A/C | — | uncertain significance |
| rs144216823 | 1:196,876,603 | C/G | — | likely benign |
| rs35881325 | 1:196,876,879 | C/T | — | benign |
| rs115621551 | 1:196,878,132 | C/A | — | — |
| rs202044205 | 1:196,879,409 | A/G | — | benign |
| rs569248104 | 1:196,879,468 | C/T | — | likely benign |
| rs929814541 | 1:196,879,470 | C/T | — | uncertain significance |
| rs759829132 | 1:196,879,523 | C/A | — | uncertain significance |
| rs1240564926 | 1:196,879,540 | C/T | — | uncertain significance |
| rs751607261 | 1:196,879,575 | C/A | — | uncertain significance |
| rs200497324 | 1:196,879,594 | C/T | — | conflicting classifications of pathogenicity |
| rs1853883 | 1:196,881,600 | G/C | intron variant | benign |
| rs756748081 | 1:196,881,870 | G/A | — | likely benign |
| rs749596407 | 1:196,881,891 | T/C | — | uncertain significance |
| rs760832074 | 1:196,881,927 | C/T | — | uncertain significance |
| rs1200625953 | 1:196,881,950 | A/G | — | uncertain significance |
| rs545223773 | 1:196,881,981 | C/G | — | uncertain significance |
| rs2478007 | 1:196,882,003 | T/A | — | likely benign |
| rs761767894 | 1:196,882,025 | G/A | — | uncertain significance |
| rs181498339 | 1:196,882,038 | A/T | — | likely benign |
| rs375638682 | 1:196,882,040 | C/A | — | uncertain significance |
| rs7522952 | 1:196,882,344 | A/G | — | benign |
| rs72468003 | 1:196,883,372 | G/A | — | benign |
| rs80092366 | 1:196,883,469 | T/A | — | benign |
| rs1379204675 | 1:196,883,633 | G/A | — | uncertain significance |
| rs201709230 | 1:196,883,650 | G/A | — | benign |
| rs75774768 | 1:196,883,678 | C/A | — | likely benign |
| rs200135698 | 1:196,883,679 | G/A | — | conflicting classifications of pathogenicity |
| rs74136017 | 1:196,883,959 | G/A | — | benign |
| rs567803314 | 1:196,884,095 | A/G | — | likely benign |
| rs1658516275 | 1:196,884,110 | C/T | — | uncertain significance |
| rs754891190 | 1:196,884,127 | G/A | — | uncertain significance |
| rs373767199 | 1:196,884,199 | T/G | — | conflicting classifications of pathogenicity |
| rs150845796 | 1:196,884,258 | A/T | — | likely benign |
| rs4915559 | 1:196,886,770 | T/A | — | — |
| rs1971579 | 1:196,887,181 | T/G | — | benign |
| rs3795341 | 1:196,887,274 | G/A | — | benign |
| rs536482365 | 1:196,887,380 | C/A | — | uncertain significance |
| rs2526656399 | 1:196,887,383 | A/G | — | uncertain significance |
| rs755673784 | 1:196,887,397 | A/G | — | uncertain significance |
| rs548391543 | 1:196,887,398 | A/C | — | benign |
| rs374409083 | 1:196,887,400 | G/A | — | uncertain significance |
| rs200907976 | 1:196,887,411 | T/C | — | conflicting classifications of pathogenicity |
| rs771020245 | 1:196,887,415 | A/T | — | uncertain significance |
| rs1286942242 | 1:196,887,432 | A/G | — | uncertain significance |
| rs201727614 | 1:196,887,451 | A/C | — | conflicting classifications of pathogenicity |
| rs10494745 | 1:196,887,457 | G/A | — | likely benign |
| rs372354422 | 1:196,887,509 | C/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.