Mutation Details for c.(?_-1270)_(*1553_?)del
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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.(?_-1270)_(*1553_?)del
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Exon or Intron
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exon 1 - exon 27
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Legacy Exon or Intron
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exon 1 - exon 24
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CFTRdele1-24
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Other Details
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The complete CFTR deletion was detected by semi-quantitative fluorescent multiplex PCR and was confirmed by fluorescent in situ hybridization with a CFTR cDNA probe. Further characterization of the deletion extent and breakpoints is being processed, as well as the inheritance of the anomaly.
The patient is French.
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Contributors
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E. Girodon, F. Niel, C. Costa, M. Goossens submitted on 2004-01-21,
F. Niel, E. Girodon, F.Dastot, V. Izard*, M. Goossens updated on 2004-10-06
2004-10-06
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
* Urology, Hopital de Bicetre, Le Kremlin Bicetre, France
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Submitted Phenotype Details
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The deletion was identified in a CBAVD patient whose phenotype is under detailed clinical investigation. He has the R117H-7T allele on the other chromosome.
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Reference
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Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. Florence NIEL, Josiane MARTIN, Florence DASTOT-LE MOAL, Bruno COSTES, Brigitte BOISSIER, Valerie DELATTRE, Michel GOOSSENS, Emmanuelle GIRODON. J Med Genet (in press)
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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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