Mutation Details for c.(?_274)_(1210_?)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.(?_274)_(1210_?)dup
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Exon or Intron
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exon 4 - exon 9
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Legacy Exon or Intron
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exon 4 - exon 8
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CFTRdup4-8
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Other Details
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The duplication was inherited from the mother who has Eastern French and Italian origins. It has been detected using semi-quantitative fluorescent multiplex PCR targeted on the 27 CFTR exons. It was further checked by another experience targeted on a fragment encompassing the IVS6a(TTGA) repeat, which showed two copies of (TTGA)6 and one copy of (TTGA)5.
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Contributors
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F. Niel, E. Girodon, M. Goossens
2004-06-16
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Institute
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Biochimie-GŽnŽtique, h™pital Henri-Mondor, CrŽteil, France
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Submitted Phenotype Details
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This duplication was identified in 23 yrs old boy having classical CF (pulmonary symptoms and PI) diagnosed in childhood.
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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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