Mutation Details for c.1823A>G

cDNA Name c.1823A>G 
Protein Name p.Glu608Gly 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name E608G 
Other Details  
Contributors Tolun A.   2002-01-01
Institute Bogazici University Istanbul, Turkey 
Submitted Phenotype Details The male CF patient was diagnosed at 2 months of age. He is PI, has sweat chloride 85 mmol/l and severe lung disease. (pers.corr. Kilinc) 

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The Database was last updated at Apr 25, 2011