WCMC logo
PMKB
  • WCMC logoPMKB
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity
  • Login
MPL
  • Information
  • View History
  • Pending Review
MPL Y591D
GeneMPL
Variantmissense
Amino Acid ChangeY591D
Transcript ID (GRCh37/hg19)ENST00000372470
Codon591
Exon12
Genomic Coordinates (GRCh37/hg19)1:43818306-43818306
COSMIC ID28997
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

Sort by
Page
Show

Tier 1
MPL
Variants
MPL Y591D
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Myeloproliferative Neoplasm
Essential Thrombocythemia
Primary Myelofibrosis
Interpretation

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).

Last updated: 2019-05-31 15:44:29 UTC
Read More
PMKB Bot
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity

Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


HELP
User Guide
Video Tutorial
INFO
About
Latest
API
Twitter
CONTACT US
Contact

Englander Institute for Precision Medicine
© Weill Cornell Medicine | Version 1.7.2Privacy PolicyTerms of use