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
- Myeloid Leukemia, Chronic
- Source Database
- DisGeNET
- Description
- The recently described JAK2 V617F mutation, present in a substantial proportion of nonchronic myelogenous leukemia chronic myeloproliferative disorders (non-CML CMPDs), is changing the way we conceptualize and diagnose these diseases.
- Pubmed
- 17255768
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.395567170261351
- Year of publication
- 2007
Drugs