Mutation Details for c.3963+42T>C
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cDNA Name
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c.3963+42T>C
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Exon or Intron
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intron 24
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Legacy Exon or Intron
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intron 21
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4095+42T/C
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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.
4095+42T/C was observed in a S African patient who claimed to have mild CF when young, no other mutation has been identified but we feel that this is 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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