Mutation Details for c.3264delC
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cDNA Name
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c.3264delC
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Protein Name
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p.Trp1089GlyfsX13
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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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3396delC
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Other Details
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This mutation was detected in an eighteen year old female by multiplex heteroduplex analysis on the MDE gel matrix and direct sequencing. The patient was also heterozygous for the [delta]F508 mutation.
Clinical data: PI, mild lung disease, sweat chloride 102
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Contributors
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Walker C,
Tsui L-C,
Zielenski J,
MacDonald N,
Mettler G
2000-06-01
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Institute
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Hospital for Sick Children
Toronto, Canada
Children's Hospital of Eastern Ontario,
Ottawa, Canada
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Submitted Phenotype Details
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Reference
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Walker et al. 2000
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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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