Mutation Details for c.1090T>C
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cDNA Name
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c.1090T>C
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Protein Name
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p.Ser364Pro
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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S364P
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Other Details
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The S364P alteration was found on one African-American CF chromosome of 50 screened. It was also detected on one of 224 nromal African-American chromosomes and was not seen on any of 181 Caucasian non CF chromosomes by ASO analysis. Whether this alteration is a rare polymorphism or a deleterious mutation in the African-American population is unclear because we have insufficient non-CF chromosomes in this population to distinguish between the two possibilities.
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Contributors
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Hamosh A,
Kiesewetter S,
Macek MJr,
Davis C,
Cutting GR
1993-08-17
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Institute
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Johns Hopkins Hospital
Baltimore, MD, USA
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Submitted Phenotype Details
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The patient is a 16 year old femal who is pancreatic insufficient with a mild pulmonary disease. She was diagnosed at age 3 due to rectal prolapse. (orig. note)
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Reference
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Hamosh et al. (NL#54)
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