Phenotype: Thrombocythemia 2


OMIM: 601977
Inheritance: Multiple
Classification: Neoplasms

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MPL || c.1514G>A

Gene/Locus:    MPL
Dna Change:    c.1514G>A
Protein Change:    p.Ser505Asn
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 10
Transcript:    NM_005373.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA8 families23 generations agoLiu K et al., 2009Liu K, Martini M, Rocca B, Amos CI, Teofili L, Giona F, Ding J, Komatsu H, Larocca LM, Skoda RC, . Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia.. Haematologica. 2009; 94(10):1368-74

References

Liu K, Martini M, Rocca B, Amos CI, Teofili L, Giona F, Ding J, Komatsu H, Larocca LM, Skoda RC, Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia.Haematologica. 2009; 94(10):1368-74