Mutation Details for c.3263dupA
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cDNA Name
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c.3263dupA
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Protein Name
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p.Asn1088LysfsX68
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Exon or Intron
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exon 20
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Other Details
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Contributors and Institutes
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| Guittard C | - | Laboratoire de Génétique Moléculaire, IURC | | 641, Av. du Doyen Gaston Giraud | - | 34093 Montpellier Cedex 5, France | | Templin C | - | Laboratoire de Génétique Moléculaire, IURC | | 641, Av. du Doyen Gaston Giraud | - | 34093 Montpellier Cedex 5, France | | Altieri JP | - | Laboratoire de Génétique Moléculaire, IURC | | 641, Av. du Doyen Gaston Giraud | - | 34093 Montpellier Cedex 5, France | | Claustres M | - | Laboratoire de Génétique Moléculaire, IURC | | 641, Av. du Doyen Gaston Giraud | - | 34093 Montpellier Cedex 5, France | | des Georges M | - | Laboratoire de Génétique Moléculaire, IURC | | 641, Av. du Doyen Gaston Giraud | - | 34093 Montpellier Cedex 5, France |
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Submitted Phenotype Details
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This mutation was identified on an allele carrying p.Ile148Thr. The patient was diagnosed with severe CF and was compound heterozygous for this complex allele and a frequent CFTR mutation: [c.3263dupA;p.Ile148Thr]+[p.Arg334Trp]
Claustres et al., 2004
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Reference
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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? Claustres M, Altiéri JP, Guittard C, Templin C, Chevalier-Porst F, Des Georges M. BMC Med Genet. 2004 Aug 2;5:19.
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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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