Mutation Details for c.1054C>G
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cDNA Name
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c.1054C>G
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Protein Name
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p.Arg352Gly
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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R352G
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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 24y M, diagnosed at 23y, with moderate lung disease, positive sweat chloride, asthma, bronchiectasis, pulmonary aspergillosis, 1342-6(5T) present. DeltaF508 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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