Mutation Details for c.(?_1211)_(2988_?)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.(?_1211)_(2988_?)dup
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Exon or Intron
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exon 11 - exon 21
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Legacy Exon or Intron
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exon 10 - exon 18
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CFTRdup10_18
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Other Details
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The duplication was detected in a CF patient by semi-quantitative fluorescent multiplex (QFM) PCR targeted on the 27 CFTR exons. The patient carried F508del on the other chromosome. QFM displayed two copies of normal exon 10 and one copy of F508del-exon 10. The mother, who is supposed to carry the duplication, is from South-Eastern France.
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Contributors
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E. Girodon, 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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The duplication was identified in a 23-years-old woman having classical CF (mild 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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