Mutation Details for c.709C>G
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cDNA Name
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c.709C>G
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Protein Name
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p.Gln237Glu
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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Q237E
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Other Details
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The substitution was founf in an adult patient presenting with chronic pulmonary infections and a positive sweat chloride test.
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Contributors
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Costes B,
Ghanem N,
Girodon E,
Goossens M
1994-04-18
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
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Submitted Phenotype Details
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Q237E was found in a 32y male, diagnosed at 21y, PS, with moderate pulmonary symptoms and positive sweat chloride. He carries deltaF508 on the other allele. (pers. corr. Girodon)
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Reference
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Costes et al. (NL#62)
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