Annotation Detail
Information
- Associated Genes
- JAK2
- Associated Variants
-
MPL p.Trp515Lys (p.W515K)
(
ENST00000372470.9,
ENST00000413998.7 )
MPL p.Trp515Lys (p.W515K) ( ENST00000372470.9, ENST00000413998.7 )
JAK2 MUTATION
JAK2 MUTATION
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 )
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 )
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 ) - Associated Disease
- thrombocytosis
- Source Database
- DisGeNET
- Description
- In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis.
- Pubmed
- 19843380
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.164325815454054
- Year of publication
- 2009
Drugs