Mutation Details for c.482A>C
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cDNA Name
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c.482A>C
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Protein Name
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p.Tyr161Ser
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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Y161S
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Other Details
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This mutation was seen in a 6 year-old CF patient whose other CF mutation is [delta]F508. The mutation and polymorphism are on the same chromosome (established in the mother). We do not yet have any clinical information. The patient was referred by S.W. Thames Regional Genetics Service. We have seen this mutation and polymorphism only once in over 100 CF chromosomes screened.
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Contributors
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Andrew N,
Malone G,
Schwarz M
1999-09-02
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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 patient(male) carries DelF508 on the other allele.
(Pers. corr. Schwarz)
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Reference
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Andrew et al. 1999
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