Mutation Details for c.(?_1394)_(1766_?)dup
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.(?_1394)_(1766_?)dup
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Exon or Intron
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exon 12 - exon 14
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Legacy Exon or Intron
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exon 11 - exon 13
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CFTRdup11_13
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Other Details
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The duplication was detected in a CBAVD patient by semi-quantitative fluorescent multiplex PCR targeted on the 27 CFTR exons. It was observed from two independent experiments targeted on different fragment sets, both including exons 11 to 13. The patient also carried the (TG)12T5 variant of IVS8.
The patient is from Morocco.
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Contributors
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E. Girodon, F. Niel, C. Costa, M. Goossens
2006-08-25
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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Isolated CBAVD
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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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