Mutation Details for c.2537G>A
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cDNA Name
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c.2537G>A
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Protein Name
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p.Trp846X
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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W846X
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Other Details
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This mutation has only been identified in one individual, thus accounting for approximately 0.3% (1/369) of our total CF chromosomes.
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Contributors
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Cheadle J,
Meredith L
1992-08-28
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Institute
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University of Wales College of Medicine
Health Park, Cardiff, UK
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Submitted Phenotype Details
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Reference
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Cheadle et al. 1993b
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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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