Mutation Details for c.293A>C
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cDNA Name
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c.293A>C
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Protein Name
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p.Gln98Pro
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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Q98P
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Other Details
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This mutation was found by DHPLC and confirmed by sequencing. The adult male patient, from Southern Sweden, carries deltaF508 on the other chromosome. The patient has high sweat chloride (116 mmol/L), bronchiectasis and CBAVD.
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Contributors
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Bjorck E,
Fallstrom M,
Kentson M
2001-08-21
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Institute
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Sahlgrenska University Hospital / East
Gothenburg, Sweden
County Hospital Ryhov
Jonkoping, Sweden
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Submitted Phenotype Details
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One patient (36, male) diagnosed at 35 (CBAVD and bronchioectasis)is PS, has moderate lung disease, sweat chloride 116 mmol/l. Del F508 on the other allele.
(Pers.corr. Bjorck)
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Reference
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Bjorck et al. 2001
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