Mutation Details for c.1584+2T>C
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cDNA Name
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c.1584+2T>C
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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+2T->C
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Other Details
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The above mutation was found by DGGE in a CF family from Southern France.
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Contributors
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Claustres M,
Guittard C,
Carles S
1996-02-02
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Institute
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Institut de Biologie Montpellier, France
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Submitted Phenotype Details
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The CF female patient died at 16 years of age. She was PI, with severe lung disease and carried deltaF508 on the other allele. (pers.corr. Claustres)
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Reference
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Claustres et al. (NL#68)
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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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