Mutation Details for c.938C>A
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cDNA Name
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c.938C>A
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Protein Name
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p.Ser313X
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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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S313X
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Other Details
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Contributors
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F.Torricelli, C.Centrone, E.Pelo, T. Repetto ,G.Taccetti
2005-10-25
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Institute
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SOD Genetica AOU CAREGGI ?Cystic Fibrosis Center AOU Meyer .Florence Italy
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Submitted Phenotype Details
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male patient , italian origin., screening diagnosed dead at age of 17 years one year after lungs transplantation, PI, severe lung disease with Pseudomonas chronic infection, diabetes
sweat test CL 109 mEq/L
F508del on the other allele
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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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