Mutation Details for c.2875delG
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cDNA Name
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c.2875delG
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Protein Name
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p.Ala959HisfsX9
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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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3007delG
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Other Details
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A deletion of G was identified at position 3007 in exon 15 (haplotype A). The second chromosome carries a [delta]F508. The patient is of French origin, PI, with a severe form.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Raguenes O,
Guillermit H,
Mercier B
1993-02-19
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Phenotype Information
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CFTR2
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Reference
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Mercier et al. 1994
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