Mutation Details for c.346G>C

cDNA Name c.346G>C 
Protein Name p.Glu116Gln 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name E116Q 
Other Details This mutation was detected in a thirty year old male with UAVD by multiplex heteroduplex analysis on the MDE gel matrix and direct sequencing. The patient was also heterozygous for the [delta]F508 mutation. Clinical Data: UAVD, borderline sweat test, chronic sinusitis 
Contributors Walker C, Tsui L-C, Zielenski J, Accurso F   2000-06-01
Institute Hospital for Sick Children Toronto, Canada The Children's Hospital Denver, USA 
Submitted Phenotype Details  
Reference Walker et al. 2000 

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The Database was last updated at Apr 25, 2011