Mutation Details for c.1783A>G

cDNA Name c.1783A>G 
Protein Name p.Met595Val 
Exon or Intron exon 14 
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. 
Reference  

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The Database was last updated at Apr 25, 2011