EGFL7
EGF like domain multiple 7
Summary
This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs181253980 | 9:139,560,447 | G/T | regulatory region variant | — |
| rs146686524 | 9:139,562,798 | C/T | — | uncertain significance |
| rs376703976 | 9:139,562,808 | G/A | — | uncertain significance |
| rs757508218 | 9:139,563,037 | G/A | — | likely benign |
| rs771912424 | 9:139,563,061 | G/A | — | uncertain significance |
| rs371106886 | 9:139,564,066 | A/G | — | uncertain significance |
| rs1306570953 | 9:139,564,092 | G/A | — | uncertain significance |
| rs745614827 | 9:139,564,120 | C/T | — | uncertain significance |
| rs146989870 | 9:139,564,387 | G/A | — | likely benign |
| rs61736886 | 9:139,564,392 | G/A | — | conflicting classifications of pathogenicity |
| rs139118330 | 9:139,564,440 | C/T | — | uncertain significance |
| rs2490654110 | 9:139,564,631 | A/T | — | uncertain significance |
| rs769372619 | 9:139,564,662 | C/T | — | uncertain significance |
| rs761716003 | 9:139,564,677 | G/A | — | uncertain significance |
| rs773233071 | 9:139,564,680 | G/A | — | uncertain significance |
| rs146367176 | 9:139,564,728 | G/A | — | uncertain significance |
| rs4636297 | 9:139,565,150 | A/G | regulatory region variant | — |
| rs1588248229 | 9:139,565,428 | G/C | — | uncertain significance |
| rs897682448 | 9:139,566,400 | C/T | — | uncertain significance |
| rs776379341 | 9:139,566,421 | A/G | — | likely benign |
| rs1845938778 | 9:139,566,430 | A/G | — | uncertain significance |
| rs200483435 | 9:139,566,442 | C/T | — | uncertain significance |
| rs1310350574 | 9:139,566,510 | A/G | — | uncertain significance |
| rs1369993058 | 9:139,566,535 | G/A | — | uncertain significance |
| rs201744588 | 9:139,566,548 | C/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.