Mutation Details for c.3815_3816delTG

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.3815_3816delTG 
Protein Name p.Ser1273LeufsX28 
Exon or Intron  
Other Details  
Contributors and Institutes
Poulou Myrto, Tzetis Maria - Department of Medical Genetics, Athens University
  
Submitted Phenotype Details This mutation was identified in a CF patient presenting with classical CF symptoms. (Sweat chloride test 118meq/Lt) The patient originates from Ukraine 
Reference  

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The Database was last updated at Apr 25, 2011