Mutation Details for c.3617C>A
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cDNA Name
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c.3617C>A
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Protein Name
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p.Ser1206X
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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S1206X(C>A)
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Other Details
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This mutation was identified on a French chromosome.
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Contributors
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Claustres M, Altieri JP, des Georges M
2004-09-23
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Institute
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Laboratoire de Genetique Moleculaire, IURC<p>
641, Av. du Doyen Gaston Giraud<p>
34093 Montpellier Cedex 5, France
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Submitted Phenotype Details
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This stop mutation was found in an adult patient referred for mild pulmonary symptoms : bronchiectasis, Ps. Aeruginosa infection, sinusitis. She carried TG13-T5 on the other allele.
Her sweat test was 82/89 mmol/l.
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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