Mutation Details for c.325T>A
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cDNA Name
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c.325T>A
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Protein Name
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p.Tyr109Asn
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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Y109N
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Other Details
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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.
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Contributors
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Schaedel C,
Holmberg L,
Kornfält R,
Hjelte L,
de Monestrol I
1998-11-17
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Institute
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Department of Pediatrics, University Hospital,
Lund, Sweden
Department of Pediatrics, University Hospital,
Huddinge, Sweden
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Submitted Phenotype Details
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No additional clinical info available.
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Reference
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Schaedel et al. 1998
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