Mutation Details for c.1054C>T
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cDNA Name
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c.1054C>T
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Protein Name
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p.Arg352Trp
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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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R352W
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Other Details
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The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy referred by West Midlands Regional Genetics Service, and whose other CF mutation was [delta]F508. We have seen it only once in over 150 samples tested.
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Contributors
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Byrne K,
Malone G,
Haworth A,
Schwarz M
1996-06-28
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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 carries DelF508 on the other allele.
(pers. corr. Schwarz)
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Reference
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Byrne et al. (NL#69)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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