Mutation Details for c.424delA
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cDNA Name
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c.424delA
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Protein Name
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p.Ile142PhefsX11
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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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556delA
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Other Details
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A frameshift mutation in exon 4 was found in a single CF chromosome. It was not found in 31 other CF chromosomes and 30 N chromosomes. The mutation creates a BgI I site.
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Contributors
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Kerem B,
Zielenski J,
Bozon D,
Tsui LC
1990-05-04
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Institute
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The Hospital For Sick Children
Toronto, ON, Canada
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Submitted Phenotype Details
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The mutation was found to be associated with PI. (pers. corr. Zielenski)
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Reference
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Zielenski et al. 1991b
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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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