Polycythemia vera
OMIM:263300Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | JAK2 |
|---|---|
| Reference transcript | NM_004972.3 |
| DNA Change | c.1849G>T |
| A.A. Change | p.Val617Phe |
| Exon/Intron | exon 14 |
| Mutation Type | substitution |
| Reference | Nadia Serbati, Kaoutar Ainouch, Sanaa Nassereddine, Hicham Harmouch, Mohamed Aouni , Sellama Nadifi.Jak2 V617f positive Polycythemia Vera in childhood Int. J. LifeSc. Bt & Pharm. Res. Vol. 1, No. 2, April 2012 |