Mutation Details for c.1622T>C

cDNA Name c.1622T>C 
Protein Name p.Leu541Pro 
Exon or Intron exon 12 
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 mutation was identified in a patient (38years) presenting azoospermia. The screening revealed a second mutation (p.N1303K). Sweat chloride levels were at 90meq/L 
Reference  

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The Database was last updated at Apr 25, 2011