Mutation Details for c.1202G>A
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cDNA Name
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c.1202G>A
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Protein Name
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p.Trp401X
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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W401X(TAG)
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Other Details
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This mutation was detected by DGGE and DNA sequencing.
(CF patient, genotype F508/W401X)
The W401X is different from the W401X reported by Cuppens (change at 1335; TGG->TGA).
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Contributors
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Férec C,
Verlingue C,
Quere I,
Mercier B
1997-01-21
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Institute
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Laboratoire de Biogénétique,
University of Brest
Brest, France
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Phenotype Information
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CFTR2
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Reference
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Férec et al. (NL#69)
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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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