Mutation Details for c.1597T>C

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.1597T>C 
Protein Name p.Phe533Leu 
Exon or Intron  
Other Details  
Contributors and Institutes
Myrto Poulou, Maria Tzetis - Department of Medical Genetics, Athens University -
Submitted Phenotype Details This change was identified during general population screening, in a male undergoing IVF. Method used DGGE and direct sequencing. 

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The Database was last updated at Apr 25, 2011