Mutation Details for c.325T>A

cDNA Name c.325T>A 
Protein Name p.Tyr109Asn 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Y109N 
Other Details The patient is a 51 yearold man from USA, first diagnosed as having cystic fibrosis at the age of 42 years. He had at that time had frequent nasal polyposis episodes and mild pulmonary symptoms. His sputum cultures have repeatedly grown Staphylococcus aereus and once Pseudomonas aaeruginosa. He is not chronically colonised with pseudomonas. He is pancreatic sufficient. His sweat chloride concentration value was 92 mEq/L. [delta]F508 was found on the other allele. 
Contributors Schaedel C, Holmberg L, Kornfält R, Hjelte L, de Monestrol I   1998-11-17
Institute Department of Pediatrics, University Hospital, Lund, Sweden Department of Pediatrics, University Hospital, Huddinge, Sweden 
Submitted Phenotype Details No additional clinical info available. 
Reference Schaedel et al. 1998 

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The Database was last updated at Apr 25, 2011