Mutation Details for c.1083delG

cDNA Name c.1083delG 
Protein Name p.Trp361CysfsX8 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1215delG 
Other Details  
Contributors Romey et al 1994   1994-01-01
Institute Laboratoire de Biochimie Genetique Montpellier, France  
Submitted Phenotype Details The mutation was found in a 11 years old male patient diagnosed at 7 years of age, carrying 2423delG on the other allele. He is PI, has pulmonary disease, and sweat chloride 106-120mmol/l. (pers. corr. Claustres and Romey et al. 1996) 
Reference Romey et al. 1994b 

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The Database was last updated at Apr 25, 2011