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cDNA Name
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c.870-2a>C
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Exon or Intron
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Other Details
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Per genetics report: This is not a previously reported CFTR mutation, but predicted to be deleterious by bioinformatic analysis. A different nucleotide substitution has been reported at this position.
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Contributors and Institutes
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| Phoenix Children's Hospital | - | K. Whitley |
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Submitted Phenotype Details
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Caucasian female diagnosed at age 14 due to recurrent bronchitis and exercise intolerance. Also has history of sinus disease requiring surgery. Sweat test 90/89. Chronically grows only MSSA on airway cultures. Pancreatic sufficient. Mild lung disease.
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Reference
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Genetic report from CFF MAP Program/John's Hopkins DNA Diagnostic Lab dated 7/30/2013
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