Mutation Details for c.500T>G

cDNA Name c.500T>G 
Protein Name p.Leu167Arg 
Exon or Intron exon 5 
Other Details Spouse of a F508del heterozygote.The L1279L mutation was detected in CFTR gene by DHPLC and direct sequencing. The 27 exons were studied by DHPLC or DGGE. Other heterozygote mutations were detected: G576A, R668C. 
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
Paulhac S. - 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