Mutation Details for c.(?_-132)_(273_?)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.(?_-132)_(273_?)dup
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Exon or Intron
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exon 1 - exon 3
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Legacy Exon or Intron
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exon 1 - exon 3
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CFTRdup1-3
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Other Details
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This novel mutation has been identified by quantitative real-time PCR on two unrelated Spanish CF alleles.
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Contributors
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L. Ramos, J. Giménez, S. Gartner*, T. Casals
2008-06-09
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Institute
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CGMM-IDIBELL. Barcelona. Spain
*CF Unit, Hospital Vall d’Hebron. Barcelona. Spain
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Submitted Phenotype Details
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A CF male identified by the neonatal screening bearing the F508del mutation on the other allele. Positive sweat test, pancreatic insufficiency and lung disease.
The second CF patient is a male diagnosed at few months with similar clinical features and the same genotype.
(pers.corr. T. Casals).
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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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