Mutation Details for c.1784T>C

cDNA Name c.1784T>C 
Protein Name p.Met595Thr 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name M595T 
Other Details The M595T mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. This mutation is present with F508del on the same allele. A559T is present on the other allele . 
Contributors Pasquet M.C., Baudis M, Creveaux I., Kitzis A.   2006-01-12
Institute Laboratoire de Genetique Cellulaire et Moleculaire, CHU de Poitiers, France 
Submitted Phenotype Details Sweet test : 108mEq/L. Digestive predominant form.  

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The Database was last updated at Apr 25, 2011