Mutation Details for c.3754A>C
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cDNA Name
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c.3754A>C
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Protein Name
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p.Thr1252Pro
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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T1252P
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Other Details
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The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. None of the reported changes have been observed previously on over 100 non-[delta]F508 CF chromosomes.
T1252P was observed in an 8 month old male child with CF symptoms who was referred from the Liverpool DNA lab by Roger Mountford. We have few clinical details although his other mutation is [delta]F508. T1252P destroys an RsaI site.
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Contributors
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Wallace AJ
1996-06-21
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Institute
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Regional Molecular Genetics Lab,
St Mary's Hospital,
Manchester, UK.
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Submitted Phenotype Details
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Reference
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Wallace (NL#69)
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