Mutation Details for c.1456G>T
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cDNA Name
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c.1456G>T
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Protein Name
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p.Gly486X
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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G486X
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Other Details
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One nine-year old girl, PI, with moderate pulmonary disease carries G486X and [delta]F508 on the other allele. This mutation was found once on 174 non-[delta]F508 chromosomes.
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Contributors
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Hughes D,
Hill A,
Graham
1995-01-18
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Institute
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Belfast City Hospital,
Northern Ireland
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Submitted Phenotype Details
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Reference
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Hughes et al. (NL#65)
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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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