Mutation Details for c.3139_3139+1delGG
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cDNA Name
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c.3139_3139+1delGG
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Protein Name
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p.Gly1047GlnfsX28
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3271delGG
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Other Details
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3271delGG at the boundary of exon 17a and intron 17a, resulting in both a frame shift for exon 17b and the loss of splice site.
This mutation was detected by temporal temperature gel electrophoresis (TTGE) and identified by sequencing.
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Contributors
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Wang J
Wong L-J
1998-12-31
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Institute
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Molecular Diagnostic Laboratory,
Institute of Molecular and Human Genetics,
Georgetown University Medical Center
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Submitted Phenotype Details
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One patient (18y old) was diagnosed at 9y6m, PI, FEV1 53% at 17y and sweat chloride 73 mmol/l. The patient has Pseudomonas colonization and abdominal pain.(pers. corr. Wang and Wong et al. 2001)
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Reference
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Wang 1998
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