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SF3A1
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Interpretation 75
Tier 2
SF3A1
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Myelomonocytic Leukemia
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Interpretation

SF3A1 is a component of the RNA splicing machinery. Missense mutations of SF3A1 are rare in myelodsyplasia, chronic myelomonocytic leukemia and acute myeloid leukemia (less than 2% of cases).

Citations
  1. Larsson CA, et al. The changing mutational landscape of acute myeloid leukemia and myelodysplastic syndrome. Mol Cancer Res 2013;11(8):815-27
  2. Yoshida K, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011;478(7367):64-9
Last updated: 2016-06-05 02:22:15 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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