Mutation Details for c.3657_3658insA
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cDNA Name
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c.3657_3658insA
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Protein Name
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p.Thr1220AsnfsX45
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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3789insA
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Other Details
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This mutation was found in a 6-year-old boy of Swedish origin. He had dF508 on the other allele. His sweat chloride concentration was 95 mmol/L. He is pancreatic insufficient and has a mild-moderate lung disease.
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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 information available.
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Reference
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Schaedel et al. 1998
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