Mutation Details for c.2374C>T

cDNA Name c.2374C>T 
Protein Name p.Arg792X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name R792X 
Other Details  
Contributors Claustres M. et al. 1993   1993-01-01
Institute Laboratoire de Biochimie Genetique Montpellier, France  
Submitted Phenotype Details The mutation was found in a 15 years old female patient with the R792X,L967S/621+2T>G genotype. She is PI, had moderate lung disease at 5 years of age, and sweat chloride 78/82 mmol/l. (pers. corr. Claustres) 
Reference Claustres et al. 1993 

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The Database was last updated at Apr 25, 2011