Mutation Details for c.580-1G>T
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cDNA Name
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c.580-1G>T
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Exon or Intron
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intron 5
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Legacy Exon or Intron
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intron 5
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712-1G->T
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Other Details
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This mutation was detected by SSCP analysis, followed by direct sequencing and it can be detected by restriction enzyme analysis because it destroys a ScrfI site. Mutation 712-1G->T was found in 2/50 unrelated Spanish CF non-[delta]F508 chromosomes.
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Contributors
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Chillon M,
Nunes V,
Casals T,
Estivill X
1993-09-09
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Institute
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Institut de Recerca Oncologica
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Phenotype Information
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CFTR2
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Reference
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Chillón et al. (NL#59)
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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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