Mutation Details for c.3368-2A>G
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cDNA Name
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c.3368-2A>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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3500-2A->G
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Other Details
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The mutation was detected by DGGE and identified by direct sequencing in a Columbian patient. It was not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes.
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Contributors
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Vidaud D,
Keyeux G,
Bousquet S,
Beldjord C,
Bienvenu T
1998-05-29
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Institute
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Groupe Hospitalier Cochin
Paris, France
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Submitted Phenotype Details
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Reference
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Vidaud et al. (NL#70)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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