Mutation Details for c.2596T>A

cDNA Name c.2596T>A 
Protein Name p.Cys866Ser 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name C866S 
Other Details This change has been detected by DGGE analysis and direct sequencing in one Spanish allele 
Contributors MD. Ramos, J. Gimenez, L. Guarner, T. Casals   2004-12-29
Institute CGMM-IRO. Barcelona. Spain Hospital Vall dUHebron. Barcelona. Spain  
Submitted Phenotype Details Male patient with chronic pancreatitis. No other mutation was found (pers. corr. T. Casals) 

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The Database was last updated at Apr 25, 2011