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cDNA Name
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c.1243_1247dupAACAA
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Protein Name
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p.Asn416LysfsX28
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Exon or Intron
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Other Details
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Mutation identified on CF MAP testing through John's Hopkins DNA Diagnostics Lab. Presumed in trans with F508del.
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Contributors and Institutes
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| Phoenix Children's Hospital- Adult Cystic Fibrosis Clinic | - | |
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Submitted Phenotype Details
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Born in South Africa in 1976. Diagnosed in infancy due to meconium ileus.Per reports in clinical notes pt initially had indeterminate sweats, however sweat results completed in 1992 show sweat chloride of 94. Pancreatic insufficient. Severe lung disease (should note patient had chemical fume exposure in the military which is thought to have contributed to his worsening lung function). Also has asthma, chronic sinus disease, and impaired glucose tolerance. Chronically grows pseudomonas aeruginosa and burkholderia cepacia on sputum culture.
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Reference
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John's Hopkins DNA Diagnostics Lab
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