Mutation Details for c.4201G>T

cDNA Name c.4201G>T 
Protein Name p.Glu1401X 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name E1401X 
Other Details This mutation was found in one CF patient of Syrian origin. The second mutation was unknown. The patient had sweat chloride of 50 meq/l, pancreatic insufficiency and mild lung disease. 
Contributors Zielenski J, Tzountzouris J, Tsui L-C, Bjorck E, Strandvik B, Wahlstrom J   1998-03-18
Institute The Hospital for Sick Children, Toronto, Canada Sahlgrenska University Hospital East Gothenberg, Sweden 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#70) 

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The Database was last updated at Apr 25, 2011