Mutation Details for c.4312C>T
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cDNA Name
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c.4312C>T
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Protein Name
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p.Arg1438Trp
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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R1438W
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Other Details
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This mutation was identified on one Italian CF chromosome, and on the same chromosome the S977F variant was found. delF508 was identified on the other chromosome.
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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 individual (male, 18 years) was diagnosed as CF at 1 year due to respiratory symptoms. His sweat test is 78 mmol/L chloride, he is pancreatic sufficient. At present his growth and lung function are in the normal range.
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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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