Mutation Details for c.3788C>T

cDNA Name c.3788C>T 
Protein Name p.Thr1263Ile 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name T1263I  
Other Details The mutation was identified on chromosomes from two non-related patients of Southern Italy origin suffering from isolated asthma. 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 Both patients are male, (6y and 8 y), followed because of asthma, and their sweat chloride were in the borderline range (30-60 mmol/L). 

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The Database was last updated at Apr 25, 2011