Mutation Details for c.3807C>T
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cDNA Name
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c.3807C>T
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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3939C/T
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Other Details
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no change (Ile at 1269)
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Contributors
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Ghanem N,
Girodon E,
Flori J,
Goossens M
1996-03-22
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Institute
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Hopital Henri Mondor
Creteil, France
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Submitted Phenotype Details
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3939C/T (I1269I) was found in 2F+M, not CF? This is considered as a polymorphism (pers corr. Girodon)
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Reference
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Ghanem et al. (NL#68)
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