Mutation Details for c.2277delC

cDNA Name c.2277delC 
Protein Name p.Thr760ArgfsX11 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2409delC 
Other Details  
Contributors Bulman M, Brownsell E, Schwarz MJ.   2008-07-24
Institute Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England 
Submitted Phenotype Details This one year old child presented with failure to thrive, a positive sweat test and chest symptoms. Her father is of Chinese origin and her mother is German. F508del was detected on the other chromosome.No other sequence changes were found after sequencing the entire coding region of the gene. 

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The Database was last updated at Apr 25, 2011