Mutation Details for c.349C>G

cDNA Name c.349C>G 
Protein Name p.Arg117Gly 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name R117G 
Other Details Was reported previously in one study of CBAVD. R117G/UND 7T/9T (Daudin et al., Fertility and Sterility, 74:1164-1174, 2000).  
Contributors Michele Caggana   2005-04-11
Institute New York State Department of Health, Division of Genetic Disorders, Newborn Screening Program 
Submitted Phenotype Details Female infant identified by newborn screening with genotype Del F508/R117G, 7T/7T. Sweat chloride was 14 mmol/L. 

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The Database was last updated at Apr 25, 2011