Mutation Details for c.4201G>T
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cDNA Name
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c.4201G>T
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Protein Name
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p.Glu1401X
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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E1401X
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Other Details
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This mutation was found in one CF patient of Syrian origin. The second mutation was unknown. The patient had sweat chloride of 50 meq/l, pancreatic insufficiency and mild lung disease.
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C,
Bjorck E,
Strandvik B,
Wahlstrom J
1998-03-18
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Institute
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The Hospital for Sick Children,
Toronto, Canada
Sahlgrenska University Hospital
East Gothenberg, Sweden
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Submitted Phenotype Details
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No additional clinical data available. See original note. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#70)
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