Mutation Details for c.2143C>T
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cDNA Name
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c.2143C>T
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Protein Name
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p.Gln715X
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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Q715X
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Other Details
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This mutation was detected by DGGE analysis and characterized by direct sequencing.
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Contributors
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Polizzi A., Santostasi T., Diana A., Logrillo VP. Manca A., and Armenio L.
2008-06-04
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Institute
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Dipartimento di Biomedicina dell’Età Evolutiva-Laboratorio Fibrosi Cistica-Azienda Policlinico-Università degli Studi di Bari- Bari-ITALY
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Submitted Phenotype Details
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The mutation was found in a CF Southern Italian patient (female) diagnosed at 10 months; positive sweat chloride (Cl-=112).
She presents a classical form of disease with pancreatic insufficiency. She has the G1349D mutation on the other CF cromosome.
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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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