Mutation Details for c.3982_3984delATAinsTT
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cDNA Name
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c.3982_3984delATAinsTT
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Protein Name
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p.Ile1328LeufsX?
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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4114ATA->TT
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Other Details
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Contributors
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1993-01-01
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Institute
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Submitted Phenotype Details
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The patient (male, 2y) was diagnosed with CF at 2 months. He is PI, has moderate lung disease and sweat chloride 100-110 mmol/l.
(pers.corr.Doerk)
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Reference
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Dörk et al. 1993c
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