Mutation Details for c.476T>A

cDNA Name c.476T>A 
Protein Name p.Leu159X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L159X 
Other Details This mutation was seen in a 2 year-old male CF patient whose other CF mutation is [delta]F508. He has had a positive sweat test and is pancreatic insufficient. We have seen this mutation and polymorphism only once in over 200 CF chromosomes screened. 
Contributors Andrew N, Malone G, Schwarz M   2000-09-14
Institute Royal Manchester Children's Hospital England 
Submitted Phenotype Details The CF patient (male, born in February 1998)is PI, has abnormal sweat chloride and possible chest symptoms. DelF508 is on the other allele. (pers. corr. Schwarz) 
Reference Andrew et al. 2000 

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The Database was last updated at Apr 25, 2011