CSF1R
colony stimulating factor 1 receptor
Summary
The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]
Known Variants732 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371174880 | 5:149,432,858 | T/C | — | benign |
| rs3828609 | 5:149,432,863 | C/T | — | benign |
| rs1757001567 | 5:149,432,864 | A/C | — | uncertain significance |
| rs564262683 | 5:149,432,883 | G/A | — | uncertain significance |
| rs1263927433 | 5:149,432,899 | C/T | — | uncertain significance |
| rs572860735 | 5:149,432,917 | G/A | — | uncertain significance |
| rs1757015333 | 5:149,433,013 | C/A | — | uncertain significance |
| rs150244467 | 5:149,433,028 | T/C | — | benign |
| rs886060253 | 5:149,433,071 | G/A | — | uncertain significance |
| rs373206666 | 5:149,433,093 | G/T | — | uncertain significance |
| rs527300272 | 5:149,433,100 | C/T | — | benign |
| rs367836988 | 5:149,433,101 | G/A | — | uncertain significance |
| rs1046339426 | 5:149,433,102 | G/T | — | uncertain significance |
| rs13117 | 5:149,433,120 | A/G | — | benign |
| rs138905856 | 5:149,433,132 | G/A | — | benign |
| rs1058920 | 5:149,433,227 | C/G | — | benign |
| rs41497048 | 5:149,433,322 | G/T | — | benign |
| rs1031187832 | 5:149,433,369 | C/G | — | uncertain significance |
| rs543512013 | 5:149,433,383 | T/C | — | uncertain significance |
| rs1034592507 | 5:149,433,399 | G/T | — | uncertain significance |
| rs952163871 | 5:149,433,400 | G/C | — | uncertain significance |
| rs78449650 | 5:149,433,401 | G/C | — | benign |
| rs373205661 | 5:149,433,402 | G/T | — | uncertain significance |
| rs574587482 | 5:149,433,411 | G/A | — | benign |
| rs138239430 | 5:149,433,433 | T/C | — | benign |
| rs886060254 | 5:149,433,476 | C/T | — | uncertain significance |
| rs188032016 | 5:149,433,516 | G/A | — | uncertain significance |
| rs1757050261 | 5:149,433,531 | A/G | — | uncertain significance |
| rs144642625 | 5:149,433,568 | G/A | — | benign |
| rs745652939 | 5:149,433,576 | C/T | — | uncertain significance |
| rs2066934 | 5:149,433,596 | T/G | — | benign |
| rs2066933 | 5:149,433,597 | A/G | — | benign |
| rs894716510 | 5:149,433,627 | A/G | — | uncertain significance |
| rs771254626 | 5:149,433,635 | G/C | — | uncertain significance |
| rs2113772338 | 5:149,433,639 | A/T | — | uncertain significance |
| rs121913392 | 5:149,433,644 | A/T | stop gained | — |
| rs1801271 | 5:149,433,645 | T/C | missense variant | — |
| rs121913393 | 5:149,433,646 | A/C | missense variant | — |
| rs2480934349 | 5:149,433,664 | A/G | — | likely benign |
| rs370648666 | 5:149,433,665 | G/A | — | conflicting classifications of pathogenicity |
| rs2480934378 | 5:149,433,666 | G/A | — | uncertain significance |
| rs1757064818 | 5:149,433,677 | A/G | — | likely benign |
| rs764837673 | 5:149,433,678 | T/A | — | uncertain significance |
| rs2113772523 | 5:149,433,685 | G/A | — | uncertain significance |
| rs2480934603 | 5:149,433,686 | C/T | — | likely benign |
| rs200068110 | 5:149,433,688 | C/T | — | likely benign |
| rs56005231 | 5:149,433,689 | G/A | — | likely benign |
| rs766007425 | 5:149,433,691 | A/G | — | uncertain significance |
| rs751974904 | 5:149,433,693 | C/T | — | likely benign |
| rs557980960 | 5:149,433,696 | G/A | — | likely benign |
| rs771346354 | 5:149,433,704 | C/T | — | likely benign |
| rs1205127061 | 5:149,433,708 | C/G | — | uncertain significance |
| rs148054244 | 5:149,433,710 | A/G | — | benign |
| rs923332469 | 5:149,433,712 | A/G | — | uncertain significance |
| rs2480935042 | 5:149,433,718 | C/T | — | uncertain significance |
| rs769701747 | 5:149,433,722 | C/T | — | likely benign |
| rs1757069345 | 5:149,433,723 | T/C | — | uncertain significance |
| rs761462650 | 5:149,433,728 | C/T | — | likely benign |
| rs751214166 | 5:149,433,742 | T/C | — | uncertain significance |
| rs537011691 | 5:149,433,745 | C/T | — | benign |
| rs147476583 | 5:149,433,746 | G/A | — | likely benign |
| rs140118369 | 5:149,433,748 | T/C | — | uncertain significance |
| rs2480935633 | 5:149,433,750 | C/A | — | uncertain significance |
| rs41287092 | 5:149,433,752 | A/G | — | benign |
| rs756684628 | 5:149,433,754 | C/T | — | conflicting classifications of pathogenicity |
| rs778420941 | 5:149,433,755 | G/A | — | conflicting classifications of pathogenicity |
| rs1220384597 | 5:149,433,759 | C/T | — | uncertain significance |
| rs1391201688 | 5:149,433,763 | T/A | — | uncertain significance |
| rs1757074943 | 5:149,433,767 | G/A | — | likely benign |
| rs2113773105 | 5:149,433,769 | T/C | — | uncertain significance |
| rs779071074 | 5:149,433,770 | C/T | — | likely benign |
| rs144414073 | 5:149,433,771 | G/A | — | conflicting classifications of pathogenicity |
| rs1757075635 | 5:149,433,773 | C/T | — | likely benign |
| rs2480936022 | 5:149,433,783 | T/C | — | likely pathogenic |
| rs2480936188 | 5:149,433,803 | A/T | — | uncertain significance |
| rs41533349 | 5:149,433,857 | C/G | — | benign |
| rs758692435 | 5:149,433,868 | A/G | — | likely benign |
| rs747191440 | 5:149,433,876 | C/T | — | likely benign |
| rs371729310 | 5:149,433,878 | C/T | — | uncertain significance |
| rs56059682 | 5:149,433,886 | C/G | — | conflicting classifications of pathogenicity |
| rs202216061 | 5:149,433,887 | G/A | — | benign |
| rs34030164 | 5:149,433,888 | C/G | — | likely benign |
| rs964312276 | 5:149,433,889 | T/G | — | uncertain significance |
| rs200925061 | 5:149,433,890 | C/T | — | benign |
| rs922508428 | 5:149,433,892 | C/G | — | likely benign |
| rs142435467 | 5:149,433,902 | C/T | — | conflicting classifications of pathogenicity |
| rs953456465 | 5:149,433,906 | G/A | — | likely benign |
| rs549775847 | 5:149,433,908 | C/G | — | uncertain significance |
| rs201061537 | 5:149,433,912 | C/T | — | likely benign |
| rs2480937194 | 5:149,433,914 | C/T | — | uncertain significance |
| rs690016560 | 5:149,433,931 | A/G | missense variant | uncertain significance |
| rs41287094 | 5:149,433,939 | G/A | — | benign |
| rs2113773961 | 5:149,433,942 | G/C | — | likely benign |
| rs690016553 | 5:149,433,947 | G/A | missense variant | not provided |
| rs1757092904 | 5:149,433,949 | C/T | — | conflicting classifications of pathogenicity |
| rs2480937489 | 5:149,433,956 | T/C | — | uncertain significance |
| rs2113774063 | 5:149,433,971 | A/G | — | uncertain significance |
| rs1561901881 | 5:149,433,977 | C/G | — | likely pathogenic |
| rs1581276926 | 5:149,433,984 | G/T | — | likely benign |
| rs1361443175 | 5:149,433,990 | G/A | — | likely benign |
Showing 100 of 732 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.