Mutation Details for c.164+1G>T

cDNA Name c.164+1G>T 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 296+1G->T 
Other Details This mutation was detected in a 19 year old male by multiplex heteroduplex analysis on the MDE gel matrix. The patient was also heterozygous for the [delta]F508 mutation and has the R75Q polymorphism. Clinical: Pancreatic insufficient. Note: The 196+1G->C mutation was previously reported by Tzetis et al. 
Contributors Walker C, Tsui L-C, Zielenski J, Brown NE   2000-08-21
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