Mutation Details for c.3454G>C
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cDNA Name
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c.3454G>C
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Protein Name
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p.Asp1152His
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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D1152H
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Other Details
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The family in whom this mutation was identified is of Ashkenazi/Jewish/North European Protestant and is remarkable for advanced age, mild pulmonary disease, pancreatic sufficiency and normal sweat chloride values. The index patient was diagnosed with variant CF at the age of 57 on the basis of clinical phenotype and abnormal nasal epithelial bioelectric parameters.
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Contributors
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Highsmith WE,
Burch L,
Friedman KJ,
Wood BM,
Spock A,
Sivlerman LM,
Knowles MR
1992-09-18
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Institute
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University of North Carolina
Chapel Hill, NC, USA
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Phenotype Information
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CFTR2
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Reference
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Highsmith et al. (NL#49)
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