Mutation Details for c.2706C>G
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cDNA Name
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c.2706C>G
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Protein Name
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p.Ser902Arg
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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S902R
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Other Details
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This variation was detected by DGGE and identified by DNA fluorescent sequencing in a 30-years patient from Southern France suffering from disseminated bronchiectasis.
She carries the 2118delAACT mutation in trans.
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Contributors
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Claustres M,
des Georges M,
Guittard C
2002-03-12
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Institute
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IURC
Montpellier
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Submitted Phenotype Details
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Patient (F) is 31y, has PS, moderate lung disease (bronchiectasis) and elevated sweat-chloride levels.
2118delAACT was found on the other allele.
(Pers. corr. Claustres)
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Reference
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Claustres et al. 2002
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