Mutation Details for c.3874-200G>A
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cDNA Name
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c.3874-200G>A
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Exon or Intron
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intron 23
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Legacy Exon or Intron
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intron 20
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4006-200G/A
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Other Details
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The nucleotide change was observed on 14% of the 160 chromosomes we have analyzed. There is no linkage disequilibrium with the CF gene. That variant may be useful to increase informativity in CF families.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Guillermit H
1991-06-04
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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Reference
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Quere et al. 1991
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