Mutation Details for c.1680A>C
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cDNA Name
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c.1680A>C
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Protein Name
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p.Arg560Ser
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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R560S
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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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Costes B,
Auloge L,
Ghanem N,
Goossens M
1993-03-22
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Institute
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Laboratoire de Biochimie
Creteil, France
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Submitted Phenotype Details
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R560S was found in a patient carrying R560S on the other allele. He was an 11y M diagnosed at 4m, PI, with moderate lung disease and positive sweat chloride. (pers corr. Girodon)
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Reference
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Costes et al. (NL#54)
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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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