Mutation Details for c.2816_2817delATinsC

cDNA Name c.2816_2817delATinsC 
Protein Name p.His439ProfsX 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2948AT->C 
Other Details This mutation was found in a 7-year-old girl of Swedish origin. She had [delta]F508 on the other allele. Her sweat chloride concentration was 100mmol/L. She is pancreatic insufficient and has a moderate lung disease. To resolve the ambiguous double sequence in exon 15 we cloned the alleles in pCR 2.1-TOPO vector using the TOPO TA cloning system (Invitrogen). 
Contributors Schaedel C   1999-05-06
Institute Department of Pediatrics University Hospital, Lund, Sweden 
Submitted Phenotype Details No additional clinical information available. 
Reference Schaedel 1999 

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The Database was last updated at Apr 25, 2011