THPO
thrombopoietin
Summary
Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5' UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified, and these upstream AUGs inhibit translation of the main ORF at different extent. [provided by RefSeq, Feb 2014]
Known Variants131 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886058217 | 3:184,089,801 | T/C | — | uncertain significance |
| rs3804618 | 3:184,089,819 | T/A | — | benign |
| rs778078910 | 3:184,089,821 | C/T | — | uncertain significance |
| rs573846929 | 3:184,089,897 | C/T | — | uncertain significance |
| rs542821225 | 3:184,089,935 | C/G | — | uncertain significance |
| rs1713957283 | 3:184,090,110 | A/C | — | uncertain significance |
| rs1353316698 | 3:184,090,193 | G/A | — | uncertain significance |
| rs78565404 | 3:184,090,242 | T/C | — | benign |
| rs6141 | 3:184,090,266 | C/T | downstream gene variant | benign |
| rs201864435 | 3:184,090,274 | T/C | — | uncertain significance |
| rs180680111 | 3:184,090,283 | C/T | — | conflicting classifications of pathogenicity |
| rs2474330518 | 3:184,090,315 | A/G | — | uncertain significance |
| rs557564073 | 3:184,090,331 | G/A | — | likely benign |
| rs35794435 | 3:184,090,333 | T/C | — | likely benign |
| rs1577353684 | 3:184,090,365 | G/C | — | uncertain significance |
| rs1032371674 | 3:184,090,369 | G/A | — | uncertain significance |
| rs149384875 | 3:184,090,370 | C/T | — | likely benign |
| rs372984771 | 3:184,090,371 | G/T | — | uncertain significance |
| rs201163272 | 3:184,090,376 | A/G | — | likely benign |
| rs977348072 | 3:184,090,380 | G/T | — | uncertain significance |
| rs62287511 | 3:184,090,390 | G/A | — | uncertain significance |
| rs377138170 | 3:184,090,400 | G/A | — | conflicting classifications of pathogenicity |
| rs144745352 | 3:184,090,406 | C/G | — | uncertain significance |
| rs752785857 | 3:184,090,410 | A/G | — | uncertain significance |
| rs746364606 | 3:184,090,430 | G/A | — | likely benign |
| rs772525753 | 3:184,090,445 | G/A | — | likely benign |
| rs1391065739 | 3:184,090,447 | G/T | — | uncertain significance |
| rs769550902 | 3:184,090,469 | A/G | — | likely benign |
| rs530613857 | 3:184,090,474 | T/C | — | conflicting classifications of pathogenicity |
| rs758806943 | 3:184,090,503 | T/C | — | uncertain significance |
| rs150122652 | 3:184,090,511 | C/T | — | likely benign |
| rs2108617655 | 3:184,090,531 | T/C | — | uncertain significance |
| rs570220657 | 3:184,090,547 | C/T | — | benign |
| rs762596097 | 3:184,090,548 | G/A | — | uncertain significance |
| rs759569299 | 3:184,090,555 | C/T | — | uncertain significance |
| rs186070598 | 3:184,090,567 | G/A | — | uncertain significance |
| rs147206404 | 3:184,090,590 | C/T | — | uncertain significance |
| rs1355254817 | 3:184,090,598 | A/G | — | likely benign |
| rs140658452 | 3:184,090,610 | G/C | — | uncertain significance |
| rs749011920 | 3:184,090,623 | A/G | — | uncertain significance |
| rs774260252 | 3:184,090,631 | G/A | — | likely benign |
| rs557362693 | 3:184,090,640 | G/C | — | uncertain significance |
| rs144399926 | 3:184,090,659 | T/C | — | uncertain significance |
| rs1365884284 | 3:184,090,678 | T/C | — | uncertain significance |
| rs767954722 | 3:184,090,683 | G/A | — | uncertain significance |
| rs886058218 | 3:184,090,692 | C/T | — | uncertain significance |
| rs748880497 | 3:184,090,714 | C/T | — | uncertain significance |
| rs757001881 | 3:184,090,722 | G/T | — | uncertain significance |
| rs1042348 | 3:184,090,724 | A/T | — | conflicting classifications of pathogenicity |
| rs745621324 | 3:184,090,739 | A/G | — | likely benign |
| rs763077384 | 3:184,090,757 | C/A | — | uncertain significance |
| rs765092121 | 3:184,090,766 | A/G | — | likely benign |
| rs773045931 | 3:184,090,774 | T/C | — | uncertain significance |
| rs202166253 | 3:184,090,784 | G/A | — | conflicting classifications of pathogenicity |
| rs565338826 | 3:184,090,839 | C/T | — | uncertain significance |
| rs746926877 | 3:184,090,840 | G/A | — | uncertain significance |
| rs528630227 | 3:184,090,844 | G/C | — | likely benign |
| rs768776540 | 3:184,090,845 | A/G | — | uncertain significance |
| rs780992873 | 3:184,090,846 | C/T | — | uncertain significance |
| rs375403097 | 3:184,090,847 | G/A | — | likely benign |
| rs2474333263 | 3:184,090,848 | C/T | — | uncertain significance |
| rs900812317 | 3:184,090,858 | A/G | — | uncertain significance |
| rs774590696 | 3:184,090,859 | C/A | — | likely benign |
| rs149021319 | 3:184,090,881 | C/T | — | uncertain significance |
| rs1408881253 | 3:184,090,885 | C/T | — | uncertain significance |
| rs750080820 | 3:184,090,893 | C/T | — | uncertain significance |
| rs1412486198 | 3:184,090,894 | G/A | — | pathogenic |
| rs1714082772 | 3:184,090,919 | G/T | — | likely benign |
| rs572476245 | 3:184,091,102 | T/G | — | — |
| rs6142 | 3:184,091,149 | T/G | — | benign |
| rs1420102231 | 3:184,091,183 | T/A | — | likely benign |
| rs2474334735 | 3:184,091,240 | A/G | — | uncertain significance |
| rs143216798 | 3:184,091,243 | C/T | — | conflicting classifications of pathogenicity |
| rs1181555052 | 3:184,091,244 | G/A | — | likely pathogenic |
| rs755218283 | 3:184,091,249 | T/C | — | uncertain significance |
| rs1126665 | 3:184,091,252 | C/A | — | uncertain significance |
| rs746148859 | 3:184,091,260 | C/G | — | uncertain significance |
| rs367562708 | 3:184,091,263 | C/T | — | likely benign |
| rs200191903 | 3:184,091,289 | G/T | — | conflicting classifications of pathogenicity |
| rs759092382 | 3:184,091,292 | C/T | — | uncertain significance |
| rs775232517 | 3:184,091,296 | T/C | — | uncertain significance |
| rs2474334978 | 3:184,091,298 | G/T | — | uncertain significance |
| rs1273225808 | 3:184,091,304 | G/A | — | pathogenic |
| rs1483209279 | 3:184,091,312 | A/G | — | uncertain significance |
| rs2474335181 | 3:184,091,338 | T/C | — | likely benign |
| rs1005731602 | 3:184,091,352 | C/T | missense variant | pathogenic |
| rs1168060886 | 3:184,091,353 | C/T | — | likely benign |
| rs1447030119 | 3:184,091,366 | T/C | — | uncertain significance |
| rs9870912 | 3:184,091,497 | T/C | — | likely benign |
| rs56181017 | 3:184,091,526 | C/T | — | benign |
| rs34623301 | 3:184,093,040 | A/G | — | benign |
| rs16858759 | 3:184,093,106 | C/T | — | benign |
| rs759490373 | 3:184,093,289 | G/T | — | likely benign |
| rs530014873 | 3:184,093,330 | A/G | — | likely benign |
| rs200666378 | 3:184,093,348 | C/A | — | conflicting classifications of pathogenicity |
| rs544021279 | 3:184,093,408 | G/T | — | benign |
| rs368995621 | 3:184,093,409 | G/T | — | likely benign |
| rs56151775 | 3:184,093,504 | C/T | — | likely benign |
| rs2280740 | 3:184,093,527 | T/C | — | benign |
| rs138940774 | 3:184,093,693 | C/T | — | uncertain significance |
Showing 100 of 131 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.