Mutation Details for c.3825T>C

cDNA Name c.3825T>C 
Protein Name p.Asp1275Asp 
Exon or Intron exon 23 
Other Details This variation does not alter the protein sequence and in silico analysis does not reveal any major changes in splicing elements, therefore considered to be a polymorphism 
Contributors and Institutes
Myrto Poulou - Department of Medical Genetics, Athens University
Emmanuel Kanavakis - Department of Medical Genetics, Athens University
Maria Tzetis - Department of Medical Genetics, Athens University
  
Submitted Phenotype Details This mutation was identified in a 5years old child referred for CFTR genotyping due to malabsorption syndrome. Screening by DGGE and direct sequencing revealed the presence of this novel variant. Sweat chloride levels were measured at 50meq/L 
Reference  

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The Database was last updated at Apr 25, 2011