Mutation Details for c.3788C>T
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cDNA Name
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c.3788C>T
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Protein Name
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p.Thr1263Ile
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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T1263I
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Other Details
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The mutation was identified on chromosomes from two non-related patients of Southern Italy origin suffering from isolated asthma. 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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Both patients are male, (6y and 8 y), followed because of asthma, and their sweat chloride were in the borderline range (30-60 mmol/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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