Mutation Details for c.4193T>G
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cDNA Name
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c.4193T>G
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Protein Name
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p.Ile1398Ser
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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I1398S
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Other Details
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This mutation was identified in two male twins with CF.
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Contributors
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Nulang Wang, Garry Cutting
2005-08-24
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Institute
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Johns Hopkins University School of Medicine
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Submitted Phenotype Details
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The twins (age 25) were diagnosed in the first 6 months of life. Their sweat chloride is 66 mmol/l and 56 mmlo/l, respectively. Both are pancreatic insufficient.
Both have mutation delta F508
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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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