Mutation Details for c.961T>C
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cDNA Name
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c.961T>C
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Protein Name
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p.Ser321Pro
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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S321P
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Other Details
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This mutation was identified in one Italian chromosome. No other mutation was identified.
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Contributors
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Seia M, Porcaro G, Corbetta C, Padoan R
2004-06-16
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Institute
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Laboratorio Genetica Medica, ICP, Milano Centro Screening Neonatale e Centro Fibrosi Cistica, ICP, Milano
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Submitted Phenotype Details
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The patient, a girl of 6 y, presented with respiratory symptoms, negative neonatal screening, chloride sweat test in the borderline range (30-60 mmmol/L)
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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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