Mutation Details for c.1076A>G
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cDNA Name
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c.1076A>G
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Protein Name
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p.Gln359Arg
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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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Q359R
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Other Details
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Asymptomatic subject
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Contributors
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Férec C
1999-01-01
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Institute
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Laboratoire de Biogénétique,
University of Brest
Brest, France
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Submitted Phenotype Details
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the French CF patient (female, 26y) has moderate lung disease and carries 1717-1G->A on the other allele. (pers.corr. Ferec)
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Reference
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Férec 1999
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