Mutation Details for c.1973_1985del13insAGAAA
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cDNA Name
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c.1973_1985del13insAGAAA
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Protein Name
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p.Arg658LysfsX4
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2105-2117del13insAGAAA
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Other Details
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Prenatal diagnosis of a Hispanic CF family with a novel mutation detected by temporal temperature gradient gel electrophoresis.
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Contributors
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Wang JJ, Wong LJC
2000-01-01
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Institute
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Molecular Diagnostic Laboratory, Institute of Molecular and Human Genetics, Georgetown University Medical Center
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Submitted Phenotype Details
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Male patient, 12 years of age, with pancreatic insuffuciency, weight loss, nasal polyps, had lung transplant. The other mutant allele is delta F508.
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Reference
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Prenat. Diagn. 20: 807-810,2000.
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