Mutation Details for c.1584+4A>T
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cDNA Name
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c.1584+4A>T
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Exon or Intron
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intron 11
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Legacy Exon or Intron
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intron 10
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1716+4 A->T
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Other Details
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The mutation was identified in a 15-year-old patient suspected of having CF. No other mutation was found after extensive screening of the coding regions and screening for large rearrangements.
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Contributors
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E. Girodon, M. Legendre, V. Pingault, M. Goossens
2006-08-25
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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The patient has disseminated bronchiectasis and borderline sweat chloride values.
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Reference
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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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