Mutation Details for c.961T>C

cDNA Name c.961T>C 
Protein Name p.Ser321Pro 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name S321P  
Other Details This mutation was identified in one Italian chromosome. No other mutation was identified. 
Contributors Seia M, Porcaro G, Corbetta C, Padoan R    2004-06-16
Institute Laboratorio Genetica Medica, ICP, Milano Centro Screening Neonatale e Centro Fibrosi Cistica, ICP, Milano  
Submitted Phenotype Details The patient, a girl of 6 y, presented with respiratory symptoms, negative neonatal screening, chloride sweat test in the borderline range (30-60 mmmol/L) 

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The Database was last updated at Apr 25, 2011