Annotation Detail
Information
- Associated Genes
- BCR
- Associated Variants
-
BCR MUTATION
BCR 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
- Blast Phase
- Source Database
- DisGeNET
- Description
- Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor cells from patients with BCR-ABL-positive CML in chronic phase and blast crisis.
- Pubmed
- 16442619
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.144158326615147
- Year of publication
- 2006
Drugs