Mutation Details for c.857_858insA
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cDNA Name
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c.857_858insA
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Protein Name
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p.Asn287LysfsX21
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Exon or Intron
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exon 7
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Legacy Exon or Intron
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exon 6b
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989-992insA
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Other Details
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Two novel mutations in a Taiwanese cystic fibrosis and a survey of East Asian CFTR mutations.
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Contributors
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Alper Özgül, Wong LJC
2002-01-01
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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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The Asian patient (male, 2 years old) has severe CF. He presented with meconium ileus at birth, has severe lung disease with Pseudomonas Aeruginosa and Staph. Aureus infections. The pancreatic status in not available. He has hepatomegaly. He carries the E7X mutation on the other allele.
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Reference
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Am JMed Genet 120A (2):296-298,2003
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