Mutation Details for c.1597T>G

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.1597T>G 
Protein Name p.Phe533Val 
Exon or Intron  
Other Details  
Contributors and Institutes
Angeliki Balassopoulou: Unit of Prenatal Diagnosis,Center for Thalassemias, Greece - Ersi Voskaridou Unit of Prenatal Diagnosis,Center for Thalassemias, Greece
  
Submitted Phenotype Details Thiw change has been identified in woman of Greek origin undergoing CFTR mutations analysis due to positive ultrasound for echogenic bowel. 
Reference  

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The Database was last updated at Apr 25, 2011