Mutation Details for c.50delT
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cDNA Name
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c.50delT
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Protein Name
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p.Phe17SerfsX8
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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182delT
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Other Details
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This frameshift mutation in exon 1 of the CF gene was first detected by SSCP analysis of a DNA fragment containing the 5' untranslated portion and exon 1 of the CFTR. The mutation involves the deletion of base 182 (182delT). The mutation is present in conjunction with E92K on the other chromosome in a Turkish CF patient. It was not found on 70 non-[delta]F508 CF chromosomes.
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Contributors
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Shackelton S,
Harris A
1993-06-07
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Institute
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University of Oxford
Oxford UK
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Submitted Phenotype Details
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The Turkish Cypriot female CF patientwas diagnosed in infancy. She carries E92K on the other allele. (pers. corr. Harris)
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Reference
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Shackleton et al. 1994
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