Annotation Detail
Information
- Associated Genes
- JAK2
- Associated Variants
-
JAK2 MUTATION
JAK2 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, Myelocytic, Acute
- Source Database
- DisGeNET
- Description
- This report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of its progression to AML.
- Pubmed
- 22041374
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.28478282280643
- Year of publication
- 2011
Drugs