Mutation Details for c.2437T>C

cDNA Name c.2437T>C 
Protein Name p.Ser813Pro 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name S813P 
Other Details  
Contributors Tzetis M.,   2002-01-01
Institute Department of Medical Genetics University of Athens St Sophia's Children's Hospital 
Submitted Phenotype Details The mutation was identified in 2 twins with very mild phenotype, borderline sweat chloride, carrying D110E on the other allele. (pers.corr. Tzetis) 

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The Database was last updated at Apr 25, 2011