Mutation Details for c.3598delinsTCT

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

cDNA Name c.3598delinsTCT 
Protein Name p.Lys1200SerfsX12 
Exon or Intron  
Other Details parents Tunesian origin 
Contributors and Institutes
E De Wachter, Universitair Ziekenhuis Brussel, Brussels, Belgium - On behalf of the Belgian CF Registry
M Thomas, WIV-Scientific Institute of Public Health Belgium - S Seneca, UNiversitair Ziekenhuis Brussel, Brrussels, Belgium
Submitted Phenotype Details age at diagnosis: toddler Curent age: adult (+/- 25 years old) pancreatic insufficient Sweat chloride: 116 mmol/L 

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The Database was last updated at Apr 25, 2011