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
- Thrombocythemia, Essential
- Source Database
- DisGeNET
- Description
- The recent discovery of mutations within the CALR gene in up to 80% of JAK2 V617F-negative ET and PMF patients compels employment of CALR mutational analysis for the molecular diagnosis of these diseases.
- Pubmed
- 25259626
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.461781343100899
- Year of publication
- 2015
Drugs