Mutation Details for c.2295G>T

cDNA Name c.2295G>T 
Protein Name p.Arg765Ser 
Exon or Intron exon 14 
Other Details R765S was observed after a neonatal diagnostic of CF. The other mutation was F508del. The 27 exons were studied by DHPLC or DGGE.The child is 15 months old and is until now in a good health. 
Contributors and Institutes
Pasquet M.C. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Baudis M. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
El Seedy A. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Saulnier J.P. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Kitzis A. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
  
Submitted Phenotype Details  
Reference  

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The Database was last updated at Apr 25, 2011