Mutation Details for c.434T>A
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cDNA Name
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c.434T>A
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Protein Name
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p.Leu145His
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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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L145H
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Other Details
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This mutation was identified in two brother siblings 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 brothers (age 16 and 14) were diagnosed at ages 9 and 7, respectively. Both have sweat chlorides of 104mmol/l and pancreatic suffient.
Both have mutation 1259insA.l
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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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