Mutation Details for c.2908+1085_3367+260del7201
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cDNA Name
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c.2908+1085_3367+260del7201
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Exon or Intron
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intron 17 - exon 20
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Legacy Exon or Intron
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intron 15 - exon 17b
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CFTR-dele 16-17a-17b
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Other Details
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Name in accordance with the standard nomenclature guidelines (HGVs). c.2908+1085_c.3367+260del7201
This deletion is different from the deletion of exons 16-17a-17b previously described by Chevalier -Porst et al..
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Contributors
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Claustres M, Altieri JP, Templin C, Guittard C, des Georges M.
2007-04-12
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Institute
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Laboratoire de Genetique Moleculaire. IURC. CHU del Montpellier. France
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Submitted Phenotype Details
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This large deletion was identified by semi-quantitative fluorescent PCR in a baby who was detected by newborn screening (positive IRT, no frequent mutation, positive sweat test). He carries another large rearrangement in trans. This mutation was inherited from his South Korean mother.
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Reference
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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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