Mutation Details for c.1397C>A
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cDNA Name
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c.1397C>A
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Protein Name
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p.Ser466X
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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S466X(TAA)
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Other Details
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This mutation was found once among 160 CF chromosomes screened for mutations in exon 10. Mutation on the other chromosome of the French CF patient is [delta]F508.
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Contributors
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Leymarie P,
Mittre H
1994-06-24
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Institute
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Laboratoire de Biochimie B
Caen, France
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Phenotype Information
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CFTR2
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Reference
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Leymarie & Mittre (NL#63)
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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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