Mutation Details for c.3262A>G
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cDNA Name
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c.3262A>G
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Protein Name
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p.Asn1088Asp
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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N1088D
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Other Details
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This mutation was found in one CF patient with [delta]F508 on the other chromosome and probably associated with R75Q. The patient had sweat chloride of 69 meq/l, pancreatic sufficiency 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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