Mutation Details for c.508C>T
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cDNA Name
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c.508C>T
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Protein Name
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p.Arg170Cys
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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R170C
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Other Details
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This mutation was identified on one French CF chromosome.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Raguenes O,
Audrezet M-P,
Mercier B
1994-04-22
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Institute
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Centre Departemental de Transfusion Snaguine
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Submitted Phenotype Details
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The individual (female, 17y) was suspected since 8 of CF. Her sweat chloride is 23 mmol/l and she has no other mutation identified. (pers.corr. Ferec)
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Reference
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F?rec et al. (NL#62)
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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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