Mutation Details for c.3780_3782delACT
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cDNA Name
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c.3780_3782delACT
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Protein Name
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p.Leu1261del
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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[delta]L1260
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Other Details
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This mutation in exon o20 was found in one Dutch patient with CF. This patient has the [delta]F508 mutation on the other allele. This mutation was detected by SSCP analysis (148 non-[delta]F508 chromosomes) and identified by direct sequencing. The detected mutation represents a deletion of threee nucleotides ACT. Whether the ACT is deleted at position 3909 or at position 3912 is unclear. The mutation results in a deletion of one of the leucines at position 1260 or at position 1261.
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Contributors
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Hermans C,
Halley D,
Ouwelan Avd
1993-11-16
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Institute
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Erasmus Universiteit Rotterdam
The Netherlands
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Submitted Phenotype Details
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Reference
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Hermans et al. 1994
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