Mutation Details for c.346G>C
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cDNA Name
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c.346G>C
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Protein Name
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p.Glu116Gln
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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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E116Q
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Other Details
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This mutation was detected in a thirty year old male with UAVD by multiplex heteroduplex analysis on the MDE gel matrix and direct sequencing. The patient was also heterozygous for the [delta]F508 mutation.
Clinical Data: UAVD, borderline sweat test, chronic sinusitis
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Contributors
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Walker C,
Tsui L-C,
Zielenski J,
Accurso F
2000-06-01
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Institute
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Hospital for Sick Children
Toronto, Canada
The Children's Hospital
Denver, USA
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Submitted Phenotype Details
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Reference
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Walker et al. 2000
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