Mutation Details for c.2797A>G
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cDNA Name
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c.2797A>G
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Protein Name
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p.Arg933Gly
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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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R933G
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Other Details
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Contributors
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Girodon et al.
2003-05-30
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Institute
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Service de Biochimie-Genetique Hopital Henri-Mondor,France
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Submitted Phenotype Details
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The mutation was found in a 36y old M, PS, with moderate lung disease and borderline sweat chloride,; he has CBAVD, disseminated bronchiectasis. R553X was found on the other allele. (pers. corr. Girodon)
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Reference
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Girodon et al. 2003
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