Mutation Details for c.2724C>T
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cDNA Name
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c.2724C>T
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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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2856C/T
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Other Details
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The T variant was found by DGGE and identified by DNA sequencing in a French patient suspected of CF. The new sequence destroys a HphI site.(Original note Claustres et al. 1997-12-01) NL#70
The polymorphism was also reported by Bozon D (1998-03-19). No further information available. NL#70
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Contributors
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Claustres M,
Guittard C,
Des George M,
Carles S
1997-12-01
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Institute
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Institut de Biologie,
Montpellier, France
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Submitted Phenotype Details
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No clinical information available.
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Reference
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Claustres et al. (NL#70)
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