Mutation Details for c.305T>G
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cDNA Name
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c.305T>G
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Protein Name
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p.Leu102Arg
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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L102R
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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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female patient , italian origin.55 years old, diagnosed at 31 years , PI, lung disease with Pseudomonas chronic infection
glucose intollerance
sweat test CL 107 mEq/L
G1244E 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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