Mutation Details for c.3001G>A

cDNA Name c.3001G>A 
Protein Name p.Val1001Met 
Exon or Intron  
Other Details This variant was detected by exon and intron-exon border sequencing. No other CFTR variants were identified in the carrier of this mutation. The sequence was not found in 135 other chromosomes from Brazilian CF patients. 
Contributors and Institutes
Xavier Pepermans - Center for Human Genetics, Université Catholique de Louvain, Brussels, Belgium
Maria Luiza Saraiva-Pereira - Medical Genetics Service and Biochemistry Department, Hospital de Clinicas de Porto Alegre, Porto Alegre, RGS, Brazil
Fernando Antonio de Abreu e Silva - Department of Pediatrics, Division of Pediatric Pulmonology, Hospital de Clinicas de Porto Alegre, Porto Alegre, RGS, Brazil
Claudio Ricachinevsky - Department of Pediatrics, Division of Pediatric Pulmonology, 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 16-year old Brazilian boy referred to a CF center with atypical clinical presentation including bronchiectasis and borderline to normal sweat chloride. 
Reference  

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The Database was last updated at Apr 25, 2011