Gene | MPL |
Variant | missense |
Amino Acid Change | Y591D |
Transcript ID (GRCh37/hg19) | ENST00000372470 |
Codon | 591 |
Exon | 12 |
Genomic Coordinates (GRCh37/hg19) | 1:43818306-43818306 |
COSMIC ID | 28997 |
Germline/Somatic? | Somatic |
Tumor Type | Primary Site |
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This MPL variant has been previously reported in the COSMIC database (COSM28997) and has been reported to be an activating mutation (PubMed ID: 26423830, Milosevic Feenstra et al., Blood 2016).