Mutation Details for c.2883G>T
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cDNA Name
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c.2883G>T
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Protein Name
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p.Met961Ile
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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M961I
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Other Details
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This mutation was seen in a 14 year-old female CF patient whose other CF mutation is [delta]F508. She has had a positive sweat test and is awaiting transplant assessment. We have seen this mutation and polymorphism only once in over 200 CF chromosomes screened.
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Contributors
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Malone G,
Andrew N,
Schwarz M
2000-09-14
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Institute
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Royal Manchester Children's Hospital
England
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Submitted Phenotype Details
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The CF patient (female) has positive sweat chloride tests. Her other mutation is DelF508.
(pers.corr.Schwarz)
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Reference
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Malone et al. 2000
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