Mutation Details for c.3617C>A

cDNA Name c.3617C>A 
Protein Name p.Ser1206X 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name S1206X(C>A) 
Other Details This mutation was identified on a French chromosome.  
Contributors Claustres M, Altieri JP, des Georges M   2004-09-23
Institute Laboratoire de Genetique Moleculaire, IURC<p> 641, Av. du Doyen Gaston Giraud<p> 34093 Montpellier Cedex 5, France 
Submitted Phenotype Details 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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The Database was last updated at Apr 25, 2011