OMIM: 601977Inheritance: Multiple
Classification: Neoplasms
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | MPL |
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| Dna Change: | c.1514G>A |
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| Protein Change: | p.Ser505Asn |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 10 |
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| Transcript: | NM_005373.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 8 families | 23 generations ago | Liu 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