Mutation Details for c.2036G>A

cDNA Name c.2036G>A 
Protein Name p.Trp679X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name W679X 
Other Details The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. The patient was also heterozygous for the [delta]F508 mutation. The patient was pancreatic sufficient. 
Contributors Walker C, Tsui L-C, Zielenski J   1999-09-27
Institute The Hospital for Sick Children Toronto, Canada 
Submitted Phenotype Details No additional clinical info available. (pers. corr. Zielenski) 
Reference Walker et al. 1999 

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The Database was last updated at Apr 25, 2011