Mutation Details for c.3871C>T

cDNA Name c.3871C>T 
Protein Name p.Gln1291X 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name Q1291X 
Other Details This mutation have been identified by DGGE and sequencing. It have been observed in a CF patient ([delta]F508/Q1291X) with a pancreatic insufficient form. 
Contributors Feldmann D, Magnier C, Laroze F, Chauve C   2000-03-17
Institute Laboratoire de Biochimie Hopital A. Trousseau, Paris, France 
Submitted Phenotype Details The mutation was found in a 23 years old male patient diagnosed at 3 years of age, PI, with severe lung disease and Pseudomonas Aeruginosa colonization. He carries deltaF508 on the other allele.(pers. corr. Feldmann) 
Reference Feldmann et al. 2000 

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The Database was last updated at Apr 25, 2011