Mutation Details for c.1874_1875delAT

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.1874_1875delAT 
Protein Name p.Tyr625PhefsX16 
Exon or Intron  
Other Details details obtained from Belgian registry study 1 of the parents is of Polish origin 
Contributors and Institutes
E De Wachter, Universitair Ziekenhuis Brussel, Brussels, Belgium - On behalf of the Belgian CF registry
M Thomas, Scientific institute of Public Health, Belgium - S Seneca, Universitair Ziekenhuis Brussel, Brussels, Belgium
  
Submitted Phenotype Details age at diagnosis <3m Current age: adult >30 years Pancreatic insufficient Sweat chloride 100 mmol/L 
Reference  

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The Database was last updated at Apr 25, 2011