Annotation Detail
Information
- Associated Genes
- JAK2
- Associated Variants
-
JAK2 p.Val617Phe (p.V617F)
(
ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 ) - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- JAK2 V617F is associated with myeloid malignanices (AML, MDS, CMML/atypical CML).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5
- Gene URL
- https://civic.genome.wustl.edu/links/genes/28
- Variant URL
- https://civic.genome.wustl.edu/links/variants/64
- Rating
- 4
- Evidence Type
- Diagnostic
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Positive
- Pubmed
- 16081687
Drugs