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GENATLAS PHENOTYPE
last update : 18-02-2009
Symbol ECYT4
Location 2p21
Name erythrocytosis/polycythemia, familial, 4
Corresponding gene EPAS1
Main clinical features
  • erythrocytosis with high EPO level
  • thromboses
    • Genetic determination autosomal dominant
    Related entries ECYT1, ECYT2, ECYT3, ECYT4
    Function/system disorder hematology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function in exon 12
    Remark(s)