Mutation Details for c.1584+77A>G
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cDNA Name
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c.1584+77A>G
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Exon or Intron
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intron 11
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Legacy Exon or Intron
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intron 10
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1716+77A/G
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Other Details
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The above 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.
The G variant of 1716+77A/G was observed in a 15 yr old Asian patient who had a borderline sweat
test but features not strongly suggestive of CF. No other mutation was identified.
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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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