Mutation Details for c.3236A>C
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cDNA Name
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c.3236A>C
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Protein Name
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p.His1079Pro
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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H1079P
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Other Details
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This mutation was identified in two sister 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 sisters (age 18 and 15) were diagnosed in their first year. The younger sisters sweat chloride is 95.5 mmlo/l, no data for the elder sister. Both siblings are pancreatic insufficient.
Both have mutauion W1282X
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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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