Mutation Details for c.3367+3A>G
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cDNA Name
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c.3367+3A>G
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Exon or Intron
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intron 20
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Legacy Exon or Intron
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intron 17b
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3499+3A->G
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Other Details
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The above mutation was detected by SSCP/heteroduplex analysis and identified by direct sequencing. The mutation was seen only once in over 20 non-[delta]F508 chromosome screened.
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Contributors
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Haworth A,
Malone G,
Schwarz M
1996-02-29
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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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The patient (female, born in Feb 1980) carries DeltaF508 on the other allele.
(pers. corr. Schwarz)
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Reference
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Haworth et al. (NL#68)
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