Mutation Details for c.382T>C

cDNA Name c.382T>C 
Protein Name p.Cys128Arg 
Exon or Intron exon 4 
Other Details  
Contributors and Institutes
Elena Samilchuk - Kuwait Medical Genetics Center
Submitted Phenotype Details Pakistani boy homozygous for p.Cys128Arg was diagnosed with CF at infancy, had sweat chloride levels >100mmole/L, and was pancreatic insufficient. He had died by age of 3. 

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The Database was last updated at Apr 25, 2011