Mutation Details for c.2816_2817delATinsC
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cDNA Name
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c.2816_2817delATinsC
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Protein Name
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p.His439ProfsX
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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2948AT->C
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Other Details
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This mutation was found in a 7-year-old girl of Swedish origin. She had [delta]F508 on the other allele. Her sweat chloride concentration was 100mmol/L. She is pancreatic insufficient and has a moderate lung disease.
To resolve the ambiguous double sequence in exon 15 we cloned the alleles in pCR 2.1-TOPO vector using the TOPO TA cloning system (Invitrogen).
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Contributors
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Schaedel C
1999-05-06
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Institute
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Department of Pediatrics
University Hospital,
Lund, 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 1999
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