Annotation Detail
Information
- Associated Genes
- PRSS27
- Associated Variants
-
PRSS27 MUTATION
PRSS27 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
- Supraventricular tachycardia
- Source Database
- DisGeNET
- Description
- The JAK2 V617F mutation is an independent risk factor for MPN and SVT.
- Pubmed
- 21497883
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2011
Drugs