Mutation Details for c.1687T>G
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cDNA Name
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c.1687T>G
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Protein Name
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p.Tyr563Asp
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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Y563D
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Other Details
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The Y563D mutation was detected on one African-American CF chromosome of 50 screened. It was not detected on any of 208 normal African-American chromosomes by ASO analysis. The patient is a 9 year old pancreatic insufficient male with mild lung disease.
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Contributors
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Hamosh A,
Kiesewetter S,
Macek MJr,
Davis C,
Cutting GR
1993-03-17
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Institute
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Johns Hopkins
Baltimore, MD, USA
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Submitted Phenotype Details
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Reference
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Hamosh et al. (NL#54)
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