Mutation Details for c.274-6T>C
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cDNA Name
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c.274-6T>C
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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406-6T->C
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Other Details
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This mutation was identified by SSCP analysis, then identified by direct sequencing. It was present in only on CF chromosome from Southern France (110 CF chromosomes analyzed), and was not found in more than 90 normal chromosomes.(Original Note Claustres et al. 1993)
The 406-6T->C was also reported as possible polymorphism by Ferec et al. in February 1997. We have found a child with the following genotype 406-6T->C/[delta]F508, he is symptom free as the sweat test is normal. This results allows us to think that the 406-6t->C is a polymorphism
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Contributors
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Claustres M,
Giansily M,
Laussel M,
Razakatzara G
1993-03-08
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Submitted Phenotype Details
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The mutation was found in a female patient with suspicion of CF; she is PS, has moderate respiratory symptoms and sweat chloride above 60 mmol/l. No other mutation was identified for this patient.
The mutation was also found in a male individual, symptoms-free. (pers. corr. Claustres)
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Reference
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Claustres et al. 1993
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