AGGF1
angiogenic factor with G-patch and FHA domains 1
Summary
This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760959442 | 5:76,330,288 | A/G | — | uncertain significance |
| rs77434353 | 5:76,330,351 | T/C | — | benign |
| rs371189047 | 5:76,331,381 | C/T | — | uncertain significance |
| rs148385240 | 5:76,331,387 | A/G | — | likely benign |
| rs202148839 | 5:76,331,395 | G/A | — | uncertain significance |
| rs138001052 | 5:76,331,419 | G/A | — | benign |
| rs34203073 | 5:76,331,449 | A/G | — | likely benign |
| rs754575482 | 5:76,331,470 | A/G | — | likely benign |
| rs1280217818 | 5:76,331,534 | A/G | — | likely benign |
| rs775698733 | 5:76,331,561 | A/G | — | uncertain significance |
| rs761396339 | 5:76,332,418 | T/C | — | uncertain significance |
| rs747813682 | 5:76,335,419 | C/T | — | uncertain significance |
| rs150609016 | 5:76,335,487 | T/A | — | uncertain significance |
| rs1171715592 | 5:76,335,522 | C/T | — | uncertain significance |
| rs200352208 | 5:76,339,609 | T/A | — | — |
| rs374701352 | 5:76,342,179 | A/G | — | uncertain significance |
| rs1747249629 | 5:76,342,202 | A/G | — | uncertain significance |
| rs774682891 | 5:76,342,286 | A/G | — | uncertain significance |
| rs145817230 | 5:76,342,349 | A/G | — | uncertain significance |
| rs61736982 | 5:76,342,447 | T/C | — | likely benign |
| rs1419139025 | 5:76,342,457 | A/G | — | uncertain significance |
| rs757667336 | 5:76,343,986 | A/G | — | uncertain significance |
| rs13155212 | 5:76,343,999 | T/C | synonymous variant | — |
| rs2531523495 | 5:76,344,093 | G/C | — | uncertain significance |
| rs768256841 | 5:76,348,554 | C/G | — | uncertain significance |
| rs761261870 | 5:76,349,792 | G/A | — | likely benign |
| rs138589794 | 5:76,349,814 | G/A | — | uncertain significance |
| rs200293219 | 5:76,349,847 | G/A | — | uncertain significance |
| rs761505257 | 5:76,351,399 | T/C | — | uncertain significance |
| rs7704267 | 5:76,354,002 | C/G | intron variant | — |
| rs749849301 | 5:76,355,444 | A/G | — | uncertain significance |
| rs138152040 | 5:76,355,468 | T/G | — | likely benign |
| rs778079289 | 5:76,355,505 | G/A | — | uncertain significance |
| rs199715425 | 5:76,355,524 | T/A | — | uncertain significance |
| rs80133945 | 5:76,357,524 | A/G | — | benign |
| rs758850261 | 5:76,357,551 | G/A | — | uncertain significance |
| rs2531543438 | 5:76,357,592 | G/T | — | uncertain significance |
| rs748063597 | 5:76,357,623 | C/T | — | uncertain significance |
| rs777907251 | 5:76,358,890 | T/G | — | uncertain significance |
| rs2531545268 | 5:76,358,908 | G/A | — | uncertain significance |
| rs566580141 | 5:76,358,985 | G/A | — | uncertain significance |
| rs145594492 | 5:76,359,018 | A/G | — | uncertain significance |
| rs141046723 | 5:76,359,042 | G/A | — | uncertain significance |
| rs149448993 | 5:76,359,048 | A/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.