Mutation Details for c.3953T>G

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

cDNA Name c.3953T>G 
Protein Name p.Val1318Gly 
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 by DGGE and direct sequencing in a male undergoing IVF. No other change was identified after screening the whole coding sequence 

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The Database was last updated at Apr 25, 2011