Mutation Details for c.531delT
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cDNA Name
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c.531delT
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Protein Name
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p.Ile177MetfsX12
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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663delT
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Other Details
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The mutation was detected by TTGE (Temporal Temperature Gel Electrophoresis) and identified by direct sequencing.
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Contributors
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Wang J,
Wong L-J
1998-11-12
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Institute
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Molecular Diagnostic Laboratory,
Institute of Molecular and Human Genetics,
Georgetown University Medical Center
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Phenotype Information
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CFTR2
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Reference
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Wang et al. 1998
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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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