Mutation Details for c.3094T>A

cDNA Name c.3094T>A 
Protein Name p.Tyr1032Asn 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name Y1032N  
Other Details This mutation was identified on one CF chromosome of Italian origin, G542X mutation was identified on the second allele  
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 individual (male, 3 year) was diagnosed as CF in the first month of life due to positive neonatal screening. Sweat test was 100 mmol/L chloride. His pancreatic status is sufficient, and at present he shows a normal growth and no pulmonary symptoms 

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The Database was last updated at Apr 25, 2011