CFAP251
cilia and flagella associated protein 251
Summary
This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Known Variants114 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12579730 | 12:122,358,464 | G/A | — | — |
| rs1678967 | 12:122,358,816 | A/T | — | — |
| rs6486782 | 12:122,359,172 | C/T | — | benign |
| rs1202644420 | 12:122,359,230 | G/A | — | uncertain significance |
| rs541405706 | 12:122,359,233 | C/A | — | uncertain significance |
| rs750133727 | 12:122,359,257 | G/A | — | uncertain significance |
| rs773371155 | 12:122,359,293 | C/T | — | uncertain significance |
| rs1419713838 | 12:122,359,381 | C/T | — | likely benign |
| rs754769413 | 12:122,359,389 | G/A | — | uncertain significance |
| rs58415126 | 12:122,359,396 | G/A | — | uncertain significance |
| rs374396629 | 12:122,359,416 | G/A | — | uncertain significance |
| rs749949583 | 12:122,359,425 | A/G | — | uncertain significance |
| rs2500449976 | 12:122,359,432 | T/C | — | uncertain significance |
| rs376367788 | 12:122,359,530 | A/G | — | uncertain significance |
| rs148746110 | 12:122,359,537 | G/A | — | uncertain significance |
| rs199671406 | 12:122,359,542 | G/T | — | likely pathogenic |
| rs2500456170 | 12:122,361,600 | G/C | — | uncertain significance |
| rs189409230 | 12:122,361,602 | C/T | — | likely benign |
| rs376661924 | 12:122,361,664 | G/C | — | uncertain significance |
| rs34703321 | 12:122,361,711 | C/T | — | likely benign |
| rs755243380 | 12:122,361,720 | C/G | — | uncertain significance |
| rs373280656 | 12:122,361,770 | G/A | — | likely benign |
| rs200006803 | 12:122,361,795 | G/A | — | likely benign |
| rs2500456873 | 12:122,361,853 | A/G | — | uncertain significance |
| rs368528812 | 12:122,361,871 | A/G | — | uncertain significance |
| rs10743187 | 12:122,362,432 | G/A | downstream gene variant | — |
| rs1720067 | 12:122,363,781 | T/G | — | — |
| rs7961894 | 12:122,365,583 | C/T | regulatory region variant | — |
| rs745817765 | 12:122,369,703 | C/T | — | pathogenic |
| rs1880704523 | 12:122,369,742 | C/T | — | uncertain significance |
| rs1452752195 | 12:122,369,755 | T/C | — | uncertain significance |
| rs766852067 | 12:122,369,758 | A/G | — | uncertain significance |
| rs186881002 | 12:122,369,761 | A/G | — | uncertain significance |
| rs7313748 | 12:122,369,762 | C/T | — | benign |
| rs191696621 | 12:122,369,786 | C/A | — | uncertain significance |
| rs77540055 | 12:122,372,183 | G/A | — | benign |
| rs754855546 | 12:122,372,211 | C/T | — | uncertain significance |
| rs74462921 | 12:122,372,260 | A/G | — | likely benign |
| rs12824593 | 12:122,374,108 | G/A | intron variant | — |
| rs2247139 | 12:122,380,274 | A/C | — | — |
| rs370870006 | 12:122,380,448 | T/C | — | uncertain significance |
| rs199834756 | 12:122,380,503 | G/A | — | likely benign |
| rs200313633 | 12:122,380,509 | C/A | — | uncertain significance |
| rs373787328 | 12:122,380,528 | A/G | — | uncertain significance |
| rs2135764189 | 12:122,380,538 | A/T | — | uncertain significance |
| rs1282310748 | 12:122,380,849 | A/C | — | uncertain significance |
| rs567709548 | 12:122,380,861 | C/T | — | uncertain significance |
| rs373303946 | 12:122,380,885 | A/G | — | uncertain significance |
| rs1277008235 | 12:122,386,909 | C/T | — | uncertain significance |
| rs78910014 | 12:122,386,948 | G/A | — | benign |
| rs151062299 | 12:122,386,966 | G/T | — | uncertain significance |
| rs1667584 | 12:122,388,396 | A/T | — | — |
| rs759581922 | 12:122,389,431 | G/C | — | uncertain significance |
| rs11043265 | 12:122,392,038 | C/T | — | benign |
| rs61952863 | 12:122,392,064 | C/T | — | likely benign |
| rs371760854 | 12:122,392,112 | G/A | — | likely benign |
| rs759027289 | 12:122,392,134 | C/T | — | uncertain significance |
| rs553974100 | 12:122,392,135 | G/A | — | uncertain significance |
| rs756152795 | 12:122,392,162 | T/C | — | uncertain significance |
| rs539960742 | 12:122,392,198 | A/G | — | uncertain significance |
| rs1881636186 | 12:122,392,202 | G/T | — | uncertain significance |
| rs576781184 | 12:122,392,238 | T/C | — | likely benign |
| rs766640582 | 12:122,394,984 | A/T | — | uncertain significance |
| rs753784878 | 12:122,395,065 | C/A | — | uncertain significance |
| rs758526019 | 12:122,395,089 | T/G | — | uncertain significance |
| rs830124 | 12:122,395,777 | A/G | intron variant | — |
| rs79320015 | 12:122,396,317 | G/A | — | uncertain significance |
| rs1481467582 | 12:122,396,364 | A/T | — | uncertain significance |
| rs763996986 | 12:122,396,369 | T/G | — | uncertain significance |
| rs890626203 | 12:122,396,380 | G/C | — | uncertain significance |
| rs199772819 | 12:122,396,394 | G/A | — | likely benign |
| rs17852561 | 12:122,396,395 | C/T | — | benign |
| rs73415652 | 12:122,396,424 | C/A | — | benign |
| rs538714102 | 12:122,396,852 | C/G | — | uncertain significance |
| rs759887596 | 12:122,396,903 | T/A | — | uncertain significance |
| rs544886439 | 12:122,396,912 | A/G | — | uncertain significance |
| rs1328496657 | 12:122,396,961 | T/G | — | uncertain significance |
| rs753450280 | 12:122,396,962 | A/G | — | uncertain significance |
| rs1192002717 | 12:122,396,975 | A/G | — | uncertain significance |
| rs747033080 | 12:122,396,985 | G/A | — | likely benign |
| rs75883955 | 12:122,396,990 | T/C | — | benign |
| rs493519 | 12:122,397,476 | T/A | — | — |
| rs2500535610 | 12:122,398,504 | C/T | — | uncertain significance |
| rs372128336 | 12:122,398,573 | C/G | — | uncertain significance |
| rs200131761 | 12:122,398,577 | T/C | — | likely benign |
| rs202115965 | 12:122,399,947 | G/A | — | uncertain significance |
| rs553964649 | 12:122,400,078 | C/G | — | likely benign |
| rs371603715 | 12:122,404,866 | C/T | — | uncertain significance |
| rs202006063 | 12:122,404,930 | G/A | — | uncertain significance |
| rs146415200 | 12:122,404,946 | C/T | — | likely benign |
| rs1169081 | 12:122,405,912 | G/T | — | benign |
| rs372855133 | 12:122,405,938 | C/T | — | likely benign |
| rs1363233384 | 12:122,406,014 | T/A | — | uncertain significance |
| rs776828759 | 12:122,406,030 | C/T | — | uncertain significance |
| rs181797814 | 12:122,413,063 | G/T | intron variant | — |
| rs1174313461 | 12:122,413,172 | C/T | — | uncertain significance |
| rs769006883 | 12:122,413,173 | T/C | — | uncertain significance |
| rs77422261 | 12:122,413,196 | T/C | — | benign |
| rs1177214495 | 12:122,413,493 | A/G | — | uncertain significance |
| rs180698776 | 12:122,413,495 | C/T | — | likely benign |
Showing 100 of 114 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.