PDGFRL
platelet derived growth factor receptor like
Summary
This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2720579 | 8:17,432,466 | G/A | downstream gene variant | — |
| rs115588653 | 8:17,434,773 | G/T | — | conflicting classifications of pathogenicity |
| rs1461781557 | 8:17,434,800 | C/G | — | uncertain significance |
| rs2720575 | 8:17,436,082 | C/G | — | — |
| rs192322963 | 8:17,445,955 | G/A | intron variant | — |
| rs137853148 | 8:17,446,988 | C/T | missense variant | pathogenic |
| rs1803888302 | 8:17,447,072 | A/G | — | uncertain significance |
| rs35704589 | 8:17,447,127 | T/C | — | benign |
| rs139878306 | 8:17,447,162 | G/A | — | uncertain significance |
| rs61733860 | 8:17,447,170 | C/A | — | benign |
| rs1329850444 | 8:17,447,207 | T/C | — | uncertain significance |
| rs140370204 | 8:17,447,233 | C/G | — | uncertain significance |
| rs373853328 | 8:17,447,267 | C/T | — | uncertain significance |
| rs777180205 | 8:17,447,268 | G/A | — | uncertain significance |
| rs13256095 | 8:17,461,421 | G/A | — | — |
| rs7829987 | 8:17,462,222 | T/G | intron variant | — |
| rs1399981665 | 8:17,478,579 | T/C | — | uncertain significance |
| rs199801810 | 8:17,478,582 | G/A | — | uncertain significance |
| rs138541368 | 8:17,478,610 | C/T | — | uncertain significance |
| rs34445293 | 8:17,478,614 | A/G | — | conflicting classifications of pathogenicity |
| rs771359871 | 8:17,478,697 | A/G | — | uncertain significance |
| rs764224315 | 8:17,486,022 | C/T | — | uncertain significance |
| rs2486258309 | 8:17,486,274 | C/G | — | uncertain significance |
| rs190301473 | 8:17,490,312 | C/G | regulatory region variant | — |
| rs767401206 | 8:17,491,583 | T/A | — | uncertain significance |
| rs368609460 | 8:17,491,590 | T/G | — | uncertain significance |
| rs372660740 | 8:17,491,595 | C/G | — | uncertain significance |
| rs532327949 | 8:17,491,604 | C/T | — | uncertain significance |
| rs146955873 | 8:17,491,606 | A/G | — | uncertain significance |
| rs199546402 | 8:17,491,616 | C/T | — | uncertain significance |
| rs2486268279 | 8:17,491,704 | G/C | — | uncertain significance |
| rs4921790 | 8:17,496,561 | C/T | — | — |
| rs148981308 | 8:17,500,131 | C/T | — | uncertain significance |
| rs35346456 | 8:17,500,162 | T/A | — | likely benign |
| rs367821279 | 8:17,500,246 | A/C | — | uncertain significance |
| rs375732912 | 8:17,500,300 | A/G | — | uncertain significance |
| rs756919852 | 8:17,500,303 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.