Mutation Details for c.1039C>T
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cDNA Name
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c.1039C>T
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Protein Name
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p.Arg347Cys
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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R347C
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Other Details
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This mutation was identified by DGGE and direct sequencing.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Audrezet MP<
Raguenes O,
Guillermit H,
Mercier B
1993-06-29
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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 mutation was identified in an asymptomatic relative of a CF patient. (pers.corr.Ferec)
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Reference
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Férec et al. (NL#56)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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