Mutation Details for c.1516A>C
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cDNA Name
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c.1516A>C
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Protein Name
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p.Ile506Leu
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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I506L
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Other Details
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The mutation was found in one Swedish CF patient by multiplex heteroduplex analysis on an MDE gel. The patient carried [delta]F508 on the other allele; the patient had sweat chloride of 103 meq/l, pancreatic sufficient, 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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