Mutation Details for c.3264delC

cDNA Name c.3264delC 
Protein Name p.Trp1089GlyfsX13 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name 3396delC 
Other Details This mutation was detected in an eighteen year old female by multiplex heteroduplex analysis on the MDE gel matrix and direct sequencing. The patient was also heterozygous for the [delta]F508 mutation. Clinical data: PI, mild lung disease, sweat chloride 102 
Contributors Walker C, Tsui L-C, Zielenski J, MacDonald N, Mettler G   2000-06-01
Institute Hospital for Sick Children Toronto, Canada Children's Hospital of Eastern Ontario, Ottawa, Canada 
Submitted Phenotype Details  
Reference Walker et al. 2000 

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The Database was last updated at Apr 25, 2011