Mutation Details for c.2551C>T
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cDNA Name
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c.2551C>T
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Protein Name
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p.Arg851X
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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R851X
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Other Details
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The nonsense mutation was identified in a Utah family. The mutation was detected on SSCP gels using the previously reported primers, and identified by direct sequencing. It was not found on 225 non-[delta]F508 CF chromosomes. This mutation detroys a TaqI site.
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Contributors
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Dean M,
White MB,
Gerrard B,
Stewart C
1990-06-05
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Institute
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National Cancer Institute,
Frederick, MD, USA
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Phenotype Information
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CFTR2
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Reference
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White et al. 1991b
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