Mutation Details for c.3657_3658insA

cDNA Name c.3657_3658insA 
Protein Name p.Thr1220AsnfsX45 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3789insA 
Other Details This mutation was found in a 6-year-old boy of Swedish origin. He had dF508 on the other allele. His sweat chloride concentration was 95 mmol/L. He is pancreatic insufficient and has a mild-moderate lung disease.  
Contributors Schaedel C, Holmberg L, Kornfält R, Hjelte L, de Monestrol I   1998-11-17
Institute Department of Pediatrics, University Hospital, Lund, Sweden Department of Pediatrics, University Hospital, Huddinge, Sweden 
Submitted Phenotype Details No additional clinical information available. 
Reference Schaedel et al. 1998 

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The Database was last updated at Apr 25, 2011