Mutation Details for c.3598delAinsTCT

cDNA Name c.3598delAinsTCT 
Protein Name p.Lys1200SerfsX12 
Exon or Intron exon 22 
Other Details  
Contributors and Institutes
Fattoum Slaheddine - Laboratoire de recherche de biologie moléculaire, Hopital d'Enfants de Tunis
Messaoud Taieb - Laboratoire de recherche de biologie moléculaire, Hopital d'Enfants de Tunis
Hadj Fredj Sondess - Laboratoire de recherche de biologie moléculaire, Hopital d'Enfants de Tunis
  
Submitted Phenotype Details The c.3598delAinsTCT mutation was observed in a 3 month old Tunisian girl with high sweat chloride test. The patient suffered from chronic cough and failure to thrive. She has the p.E1104X mutation on second allele. 
Reference  

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The Database was last updated at Apr 25, 2011