Mutation Details for c.3874-103delT
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cDNA Name
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c.3874-103delT
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Exon or Intron
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intron 23
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Legacy Exon or Intron
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intron 20
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4006-103delT
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Other Details
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The presumed polymorphism was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes.
4006-103delT was observed in a normal adult female undergoing screening due to infertility treatment for her partner who was a [delta]F508 carrier and who had CBAVD. This change is highly likely to be a
polymorphism.
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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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