Mutation Details for c.3106delA

cDNA Name c.3106delA 
Protein Name p.Thr1036LeufsX? 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3238delA 
Other Details This mutation was found in a Czech patient with the classical form of CF. The other mutation in trans is the large intragenic deletion dele2-3.  
Contributors Marie-Pierre Audrezet, Milan Macek Jr., Vera Vavrova, Dana Zemkova, Andrea Holubova, Claude Ferec   2005-07-13
Institute ETSBO-Brest, France and Charles University Prague -  
Submitted Phenotype Details The female patient was diagnosed at the age of 4 months with mean sweat chloride concentrations of 77 mmol/L. She is pancreatic insufficient, has normal lung functions, CFLD is absent and is colonized by S. Aureus and H. influenze. Chest X-ray shows typical bronchiectases and atelectases.  

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The Database was last updated at Apr 25, 2011