Mutation Details for c.927delC
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cDNA Name
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c.927delC
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Protein Name
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p.Phe310SerfsX18
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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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1058delC
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Other Details
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The above mutation was detected by SSCP and identified by direct DNA sequencing. 1058delC was detected only once in 200 non-[delta]F508 chromosomes screened; the patient has [delta]F508 on the other chromosome.
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Contributors
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Malone G,
Hawworth A,
Schwarz M
1995-07-03
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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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2 patients, one female, one male, both carrying delF508 on the other allele.
(pers.corr.Schwarz)
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Reference
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Malone et al. (NL#66)
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