Mutation Details for c.350G>T
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cDNA Name
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c.350G>T
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Protein Name
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p.Arg117Leu
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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R117L
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Other Details
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This mutation was identified by DGGE and direct sequencing and was identified on one CF chromosome of Italian origin.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Audrezet MP,
Mercier B,
Novelli G,
Sanguiolo F,
Dallapiccola B
1994-02-14
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The Italian CF patient (female) was diagnosed at 2 months of age. She has no pulmonary symptoms, is PS, sweat chloride 36-49 mmol/l. The patient carries DeltaF508 on the other allele.
(Padoan et all 2001 and pers.corr. Ferec)
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Reference
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Férec et al. 1995
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