Mutation Details for c.414_415insCTA
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cDNA Name
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c.414_415insCTA
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Protein Name
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p.Leu139X
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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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546insCTA
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Other Details
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This mutation was detected in a 62 year old patient by multiplex heteroduplex analysis on the MDE gel matrix.
The patient was also heterozygous for the [delta]F508 mutation. Clinical: Pancreatic sufficient.
The 547insTA mutation was previously reported by Tzetis et al. in NL#68
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Contributors
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Walker C,
Tsui L-C,
Zielenski J
Zuberbuhler P
2000-07-20
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Institute
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Hospital for Sick Children
Toronto, Canada
University of Alberta Hospitals
Edmonton, 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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