Mutation Details for c.3808G>T
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cDNA Name
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c.3808G>T
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Protein Name
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p.Asp1270Tyr
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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D1270Y
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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 siblings (age 40 and 38) were diagnosed at ages 23 and 22, respectively. The elderS sweat chloride is 77mmol/l, the yiunger's is 68 mmol/l. Both are pancreatic sufficient.
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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