Mutation Details for c.1648G>T
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cDNA Name
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c.1648G>T
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Protein Name
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p.Gly550X
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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G550X
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Other Details
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This nonsense mutation in exon 11 of the CFTR gene was identified in 2 apparently unrelated Dutch CF patients. Both patients have the [delta]F508 mutation on the other allele. G550X (ntG1780T) was detected by SSCP analysis (98 non-[delta]F508 chromosomes) and direct sequencing. The mutation co-inherited with haplotype 2(XV2C)-(KM19).
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Contributors
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Deiman C,
Deelan W,
Halley D
1992-02-25
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Institute
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Erasmus Universiteit Rotterdam
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Submitted Phenotype Details
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Reference
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Deiman et al. (NL#43)
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