Mutation Details for c.3634G>T

cDNA Name c.3634G>T 
Protein Name p.Val1212Phe 
Exon or Intron exon 22 
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 variant was identified by DGGE and direct sequencing, in a women during carrier screening. 
Reference  

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The Database was last updated at Apr 25, 2011