Mutation Details for c.1390A>G

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.1390A>G 
Protein Name p.Lys464Glu 
Exon or Intron  
Other Details Both parents Morrocan origin These data are the result of a Belgian CF registry study 
Contributors and Institutes
E De Wachter, Universitair Ziekenhuis Brussel - On behalf of the Belgian CF Registry
M Thomas, Scientific Institute of Public Health - S Seneca, Universitair Ziekenhuis Brussel
  
Submitted Phenotype Details age at diagnosis: between 1-3 months current age: school-age child pancreatic insufficient sweat chloride: 110 mmol/L  
Reference  

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The Database was last updated at Apr 25, 2011