Mutation Details for c.414_415insCTA

cDNA Name c.414_415insCTA 
Protein Name p.Leu139X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 546insCTA 
Other Details This mutation was detected in a 62 year old patient by multiplex heteroduplex analysis on the MDE gel matrix. The patient was also heterozygous for the [delta]F508 mutation. Clinical: Pancreatic sufficient. The 547insTA mutation was previously reported by Tzetis et al. in NL#68 
Contributors Walker C, Tsui L-C, Zielenski J Zuberbuhler P   2000-07-20
Institute Hospital for Sick Children Toronto, Canada University of Alberta Hospitals Edmonton, Canada 
Submitted Phenotype Details  
Reference Walker et al. 2000 

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The Database was last updated at Apr 25, 2011