FAT1
FAT atypical cadherin 1
Summary
This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]
Known Variants1,133 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7680937 | 4:187,509,492 | C/T | — | benign |
| rs73873643 | 4:187,509,604 | G/A | — | likely benign |
| rs75546828 | 4:187,509,614 | G/A | — | benign |
| rs1381175578 | 4:187,509,739 | T/C | — | likely benign |
| rs373515547 | 4:187,509,755 | C/G | — | likely benign |
| rs142057401 | 4:187,509,786 | G/A | — | likely benign |
| rs376002194 | 4:187,509,791 | C/T | — | likely benign |
| rs2477218705 | 4:187,509,816 | C/T | — | uncertain significance |
| rs146328457 | 4:187,509,838 | C/T | — | uncertain significance |
| rs371459868 | 4:187,509,841 | C/T | — | uncertain significance |
| rs1179253893 | 4:187,509,854 | G/A | — | likely benign |
| rs756828769 | 4:187,509,856 | A/G | — | uncertain significance |
| rs148468016 | 4:187,509,861 | G/C | — | likely benign |
| rs371451914 | 4:187,509,868 | C/T | — | uncertain significance |
| rs769964561 | 4:187,509,883 | C/T | — | uncertain significance |
| rs2477220153 | 4:187,509,886 | T/C | — | uncertain significance |
| rs773428259 | 4:187,509,893 | G/A | — | likely benign |
| rs200939422 | 4:187,509,906 | G/C | — | uncertain significance |
| rs1394546790 | 4:187,509,919 | C/T | — | uncertain significance |
| rs142612329 | 4:187,509,923 | G/A | — | benign |
| rs555931755 | 4:187,509,927 | G/A | — | likely benign |
| rs192609167 | 4:187,509,931 | C/T | — | likely benign |
| rs2126350753 | 4:187,509,976 | T/C | — | uncertain significance |
| rs201477548 | 4:187,510,008 | T/C | — | uncertain significance |
| rs183728932 | 4:187,510,024 | C/T | — | uncertain significance |
| rs150973681 | 4:187,510,025 | G/A | — | benign |
| rs772054594 | 4:187,510,029 | G/A | — | uncertain significance |
| rs199927785 | 4:187,510,037 | A/C | — | uncertain significance |
| rs189343266 | 4:187,510,038 | T/C | — | uncertain significance |
| rs1415943513 | 4:187,510,039 | T/G | — | uncertain significance |
| rs139623858 | 4:187,510,049 | C/T | — | likely benign |
| rs35485176 | 4:187,510,072 | G/A | — | likely benign |
| rs375425015 | 4:187,510,101 | G/A | — | conflicting classifications of pathogenicity |
| rs368666671 | 4:187,510,102 | C/T | — | uncertain significance |
| rs374816994 | 4:187,510,114 | C/T | — | uncertain significance |
| rs147776400 | 4:187,510,154 | G/A | — | likely benign |
| rs759073897 | 4:187,510,160 | T/G | — | uncertain significance |
| rs564857943 | 4:187,510,162 | A/G | — | likely benign |
| rs375324376 | 4:187,510,199 | G/A | — | likely benign |
| rs570007106 | 4:187,510,237 | G/A | — | uncertain significance |
| rs1409256573 | 4:187,510,248 | G/A | — | uncertain significance |
| rs201847759 | 4:187,510,258 | C/T | — | uncertain significance |
| rs3775307 | 4:187,510,280 | G/A | — | benign |
| rs372355349 | 4:187,510,296 | A/G | — | uncertain significance |
| rs758757364 | 4:187,510,305 | T/C | — | uncertain significance |
| rs778375461 | 4:187,510,308 | T/G | — | uncertain significance |
| rs34174591 | 4:187,510,319 | C/T | — | benign |
| rs535317218 | 4:187,510,324 | T/C | — | uncertain significance |
| rs558459409 | 4:187,510,329 | G/A | — | uncertain significance |
| rs192910004 | 4:187,510,339 | C/T | — | conflicting classifications of pathogenicity |
| rs369994223 | 4:187,510,341 | C/G | — | uncertain significance |
| rs774685734 | 4:187,510,342 | T/C | — | uncertain significance |
| rs201618936 | 4:187,510,355 | T/G | — | likely benign |
| rs752679483 | 4:187,510,357 | A/G | — | uncertain significance |
| rs114594630 | 4:187,510,557 | C/G | — | likely benign |
| rs115711850 | 4:187,516,525 | G/A | — | benign |
| rs2306987 | 4:187,516,655 | T/A | intron variant | benign |
| rs79403902 | 4:187,516,705 | T/C | — | likely benign |
| rs75306482 | 4:187,516,770 | G/A | — | likely benign |
| rs143315416 | 4:187,516,776 | G/A | — | likely benign |
| rs4862721 | 4:187,516,814 | T/C | — | likely benign |
| rs371207320 | 4:187,516,840 | C/A | — | likely benign |
| rs745683952 | 4:187,516,850 | A/G | — | likely benign |
| rs867833343 | 4:187,516,853 | G/A | — | likely benign |
| rs761872072 | 4:187,516,856 | C/T | — | likely benign |
| rs1190911858 | 4:187,516,878 | A/G | — | uncertain significance |
| rs1298865 | 4:187,516,880 | A/G | — | benign |
| rs370346177 | 4:187,516,907 | G/A | — | likely benign |
| rs375073515 | 4:187,516,927 | G/A | — | uncertain significance |
| rs80120846 | 4:187,516,939 | G/T | — | likely benign |
| rs546255152 | 4:187,516,943 | C/T | — | likely benign |
| rs1362254454 | 4:187,516,989 | A/C | — | likely benign |
| rs374255040 | 4:187,516,994 | T/C | — | likely benign |
| rs114747729 | 4:187,517,210 | C/T | — | benign |
| rs375970286 | 4:187,517,699 | T/C | — | uncertain significance |
| rs2126386642 | 4:187,517,736 | T/G | — | uncertain significance |
| rs749539438 | 4:187,517,757 | G/C | — | uncertain significance |
| rs3822060 | 4:187,517,758 | G/A | — | benign |
| rs377702655 | 4:187,517,762 | G/T | — | uncertain significance |
| rs554536909 | 4:187,517,785 | G/A | — | likely benign |
| rs182468905 | 4:187,517,794 | C/T | — | likely benign |
| rs1398133234 | 4:187,517,814 | C/T | — | uncertain significance |
| rs767252519 | 4:187,517,826 | C/T | — | uncertain significance |
| rs754068090 | 4:187,517,827 | G/A | — | likely benign |
| rs750458975 | 4:187,517,839 | G/A | — | likely benign |
| rs1388880480 | 4:187,517,848 | G/A | — | likely benign |
| rs950880142 | 4:187,517,853 | G/C | — | uncertain significance |
| rs983524169 | 4:187,517,874 | C/A | — | likely pathogenic |
| rs373689624 | 4:187,517,886 | G/A | — | conflicting classifications of pathogenicity |
| rs752236221 | 4:187,517,893 | A/C | — | uncertain significance |
| rs370465267 | 4:187,517,920 | C/T | — | likely benign |
| rs752393398 | 4:187,517,947 | C/G | — | likely benign |
| rs368267696 | 4:187,518,002 | G/A | — | uncertain significance |
| rs751716620 | 4:187,518,019 | C/T | — | likely benign |
| rs748406098 | 4:187,518,023 | G/C | — | uncertain significance |
| rs147405100 | 4:187,518,024 | C/T | — | likely benign |
| rs72716244 | 4:187,518,041 | C/T | — | likely benign |
| rs751626816 | 4:187,518,071 | C/T | — | uncertain significance |
| rs201960763 | 4:187,518,072 | G/A | — | uncertain significance |
| rs767899323 | 4:187,518,087 | G/C | — | uncertain significance |
Showing 100 of 1,133 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.