Mutation Details for c.2731A>C

cDNA Name c.2731A>C 
Protein Name p.Ser911Arg 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name S911R 
Other Details  
Contributors Seia M., Padoan R.   2002-01-01
Institute Lab. Genetica Molecolare, Centro Fibrosi Cistica, ICP e Universit√† degli Studi, Italy 
Submitted Phenotype Details The mutation was found in a 59 years old female diagnosed at 57 with severe lung disease (bronchiectasis and Pseudomonas aeruginosa). Her sweat chloride was 88 mmol/l She carries deltaF508 on the other allele. The pancreatic status (sufficient/nonsufficient) is unknown. (pers.corr. Padoan) 

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The Database was last updated at Apr 25, 2011