Mutation Details for c.1478A>C

cDNA Name c.1478A>C 
Protein Name p.Gln493Pro 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name Q493P 
Other Details  
Contributors Tolun A..   2002-01-01
Institute Bogazici University Istanbul, Turkey  
Submitted Phenotype Details The CF male patient diagnosed at 3 months of age, succumbed. He had severe lung disease, was PI and had sweat chloride 90 mmol/l. He was homozygous for Q493P. (pers.corr. Kilinc)  

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The Database was last updated at Apr 25, 2011