Mutation Details for c.1006A>C

cDNA Name c.1006A>C 
Protein Name p.Ile336Leu 
Exon or Intron exon 8 
Other Details  
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 has been identified through DGGE and direct sequencing, while screening a member of general population. No other change was identified after screening all the coding regions 
Reference  

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The Database was last updated at Apr 25, 2011