Mutation Details for c.845_846insA
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cDNA Name
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c.845_846insA
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Protein Name
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p.Met284AsnfsX3
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Exon or Intron
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exon 7
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Legacy Exon or Intron
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exon 6b
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977insA
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Other Details
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This is the insertion of a single A in a poly A repeat (977-982 InsA). This frameshift introduces a stop codon, two codons downstream of the repeat. We have identified only one CF chromosomes carrying this mutation out of our total 369 CF chromosomes.
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Contributors
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Cheadle J,
Meredith L
1992-06-18
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Institute
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University of Wales College of Medicine
Health Park, Cardiff
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Submitted Phenotype Details
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Reference
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Cheadle et al. 1993a
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