Mutation Details for c.3494A>C

cDNA Name c.3494A>C 
Protein Name p.Lys1165Thr 
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 change has been identified through DGGE and direct sequencing, while screening an 11-years old child presenting with low body weight and recurrent episodes of bronchitis. No other mutation was identified after scanning of exons 3,4,7,10,11,12,13,14b, 15,16,17b,20,21,23 
Reference  

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The Database was last updated at Apr 25, 2011