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Gene entry

MPL

MPL proto-oncogene, thrombopoietin receptor

Chromosome
1
Cytoband
1p34.2
Variants (rsID)
10

MPL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p34.2). Its official name is “MPL proto-oncogene, thrombopoietin receptor”. The reference table lists 10 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs12731981Benignsingle nucleotide variantCongenital amegakaryocytic thrombocytopenia|Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia
  • rs149265851Benignsingle nucleotide variantCongenital amegakaryocytic thrombocytopenia|Thrombocythemia 1|Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia
  • rs16830693Benignsingle nucleotide variantCongenital amegakaryocytic thrombocytopenia|Thrombocythemia 1|Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia
  • rs141311765Conflicting interpretationssingle nucleotide variantCongenital amegakaryocytic thrombocytopenia|Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia
  • rs121913611Pathogenicsingle nucleotide variantCongenital amegakaryocytic thrombocytopenia|Essential thrombocythemia|Congenital amegakaryocytic thrombocytopenia
  • rs146249964Pathogenicsingle nucleotide variantCongenital amegakaryocytic thrombocytopenia|Congenital amegakaryocytic thrombocytopenia|Thrombocythemia 2|Myelofibrosis|Thrombocytopenia|MPL-Related Disorders|Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia|Myelofibrosis
  • rs148434485Pathogenicsingle nucleotide variantCongenital amegakaryocytic thrombocytopenia|MPL-Related Disorders|Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia
  • rs28928907Pathogenicsingle nucleotide variantCongenital amegakaryocytic thrombocytopenia|Thrombocytopenia|Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia
  • rs587778515PathogenicDeletionCongenital amegakaryocytic thrombocytopenia|Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.