Mutation Details for c.3472C>A

cDNA Name c.3472C>A 
Protein Name p.Arg1158Arg 
Exon or Intron exon 22 
Other Details It was identified by DGGE analysis and direct sequencing. 
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 change was identified in a male tested for CFTR mutations due to oligospermia. 
Reference  

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The Database was last updated at Apr 25, 2011