Mutation Details for c.3497delT
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cDNA Name
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c.3497delT
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Protein Name
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p.Phe1166SerfsX26
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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3629delT
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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 2y M patient was diagnosed at 3m, is PI, has severe pulmonary disease and positive sweat chloride, also cariies 875+1G->A and S1235R. (pers. corr. Girodon)
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Reference
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Girodon et al. 2003
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