Mutation Details for c.2291delG

cDNA Name c.2291delG 
Protein Name p.Arg764GlnfsX7 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2423delG 
Other Details  
Contributors Romey et al.    1994-01-01
Institute Laboratoire de Biochimie Genetique Montpellier, France  
Submitted Phenotype Details The mutation was found in a CF patient (male, 11y) diagnosed at 7 years of age. He is PI, has pulmonary disease and sweat chloride 106-120 mmol/l. He carries 1215delG on the other allele.(Romey et al. 1996) 
Reference Romey et al. 1994b 

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The Database was last updated at Apr 25, 2011