Mutation Details for c.405_406dupAC

cDNA Name c.405_406dupAC 
Protein Name p.Leu136HisfsX18 
Exon or Intron exon 4 
Other Details  
Contributors and Institutes
Myrto Poulou - Department of Medical Genetics, Athens University
Emmanuel Kanavakis - Department of Medical Genetics, Athens University
Maria Tzetis - Department of Medical Genetics, Athens University
  
Submitted Phenotype Details The patient of Greek origin was reffered for CFTR genotyping at the age of 5 months old. Sweat chloride test 111.5meq/L 
Reference  

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The Database was last updated at Apr 25, 2011