Mutation Details for c.869+12C>T
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cDNA Name
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c.869+12C>T
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Exon or Intron
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intron 7
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Legacy Exon or Intron
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intron 6b
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1001+12C/T
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Other Details
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This polymorphism was first reported in NL#24 as 372+12C->T. It was changed to 372+12C->T in NL#25. In fact, these investigators meant 1001+12C/T, a change in intron 6b. It was found in 2 of 16 non-[delta]F508 chromosomes screened.
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Contributors
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Nunes V,
Estivill X
1990-08-07
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Institute
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Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
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Submitted Phenotype Details
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Reference
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Nunes et al. (NL#24)
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