Mutation Details for c.2087A>G

cDNA Name c.2087A>G 
Protein Name p.Lys696Arg 
Exon or Intron exon 14 
Other Details The K696R mutation was detected by DHPLC and direct sequencing.We analyzed the 27 exons of CFTR by DHPLC or DGGE. No other mutation was found. 
Contributors and Institutes
Pasquet M.C. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Baudis M. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Gilbert B. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Kitzis A. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
  
Submitted Phenotype Details General population. Spouse of a F508del heterozygote. 
Reference  

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The Database was last updated at Apr 25, 2011