Mutation Details for c.1117-5A>G
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cDNA Name
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c.1117-5A>G
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Exon or Intron
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intron 8
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Legacy Exon or Intron
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intron 7
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1249-5A->G
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Other Details
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It was found in one French female CF patient. She carries [delta]F508 on the other chromosome. This mutation was not found on further 120 CF chromosomes.
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Contributors
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Bienvenu T,
Cazeneuve C,
Kaplan JC,
Beldjord C
1994-04-03
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Institute
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Hopitaux de Paris
Paris, France
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Submitted Phenotype Details
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The female French CF patient has positive sweat chloride and carries deltaF508 on the other allele. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#62)
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