Mutation Details for c.3177A>G
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cDNA Name
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c.3177A>G
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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L1059L (3309A/G)
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Other Details
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no change (Leu at 1059)
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Guillermit H,
Mercier B
1992-11-06
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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 French CF patient has sweat chloride of 100 mmol/l.(pers. corr. Ferec)
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Reference
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Ferec et al. (NL#50)
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