Mutation Details for c.2806C>A

cDNA Name c.2806C>A 
Protein Name p.Pro936Thr 
Exon or Intron exon 17 
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 found in two unrelated cases. The first incidence concerned a 4 months old girl referred for CFTR genotyping due to failure to thrive. Screening by DGGE and direct sequencing revealed the presence of two novel variants in trans (the other being p.Leu1227Leu in exon 19). The second incidence concerned an adult male screened as a member of the general population 
Reference  

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The Database was last updated at Apr 25, 2011