Mutation Details for c.3925C>T

cDNA Name c.3925C>T 
Protein Name p.Gln1309X 
Exon or Intron  
Other Details This mutation was detected by exon sequencing. The mutant sequence was not found in 107 other chromosomes from Brazilian CF patients and was found together with a missense mutation, R347Q. 
Contributors and Institutes
Xavier Pepermans - Center for Human Genetics, Université Catholique de Louvain, Brussels, Belgium
Fernando Antonio de Abreu e Silva - Department of Pediatrics, Division of Pediatric Pulmonology, Hospital de Clinicas de Porto Alegre, Porto Alegre, RGS, Brazil
Anneliese Hoffmann - Department of Pediatrics, Division of Pediatric Pulmonology, Hospital de Clinicas de Porto Alegre, Porto Alegre, RGS, Brazil
Maria Luiza Saraiva-Pereira - Medical Genetics Service and Biochemistry Department, Hospital de Clinicas de Porto Alegre, Porto Alegre, RGS, Brazil
Teresinha Leal - Center for Human Genetics, Université Catholique de Louvain, Brussels, Belgium
  
Submitted Phenotype Details The patient is a 9-year old Brazilian boy referred to a CF center by age of 6 years with respiratory symptoms. He has chronic colonization by Pseudomonas aeruginosa, nasal polyps and elevated sweat chloride concentrations (between 107 and 135 mmol/L). The patient is pancreatic sufficient. 
Reference  

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The Database was last updated at Apr 25, 2011