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, Myeloid, Chronic, Atypical, BCR-ABL Negative
- Source Database
- DisGeNET
- Description
- Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm.
- Pubmed
- 18555525
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00626302610117525
- Year of publication
- 2008
Drugs