Annotation Detail

Information
Associated Genes
FLT3
Associated Variants
FLT3 MUTATION
FLT3 MUTATION
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
Associated Disease
Leukemia, Myelomonocytic, Chronic
Source Database
DisGeNET
Description
At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression.
Pubmed
17050076
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00609127331760558
Year of publication
2006
Drugs