Mutation Details for c.72G>C
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cDNA Name
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c.72G>C
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Protein Name
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p.Leu24Phe
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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L24F
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Other Details
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This mutation was identified in cis with the novel mutation 296+2T to G on one Italian CF chromosome. The other chromosome shows a delF508 mutation
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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, 1 year) was diagnosed as CF in the first month of life due to positive neonatal screening. His sweat test is 98 mmol/L chloride, he presents a severe pancreatic insufficiency., with early pulmonary symptoms.
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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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