Mutation Details for c.1694A>G

cDNA Name c.1694A>G 
Protein Name p.Asp565Gly 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name D565G 
Other Details Additional consequence: splicing mutation (mRNA analysis proves that mutation causes exon 12 skipping) 
Contributors Tzetis M.,   2002-01-01
Institute Department of Medical Genetics University of Athens St Sophia's Children's Hospital 
Submitted Phenotype Details The mutation was identified in 2 patients, one male with CBAVD, diagnosed in adulthood, with a mild phenotype (PS, mild pulmonary symptoms and sweat chloride less then 40 mmol/l) and one female (16 years old) with mild pulmonary symptoms, Staph. Aureus infections and nasal polyps, PS and sweat chloride 70 mmol/l. Both carried unknown other mutation. (pers.corr. Tzetis) 
Reference Tzetis et al. Hum Genet; 109:592-601,2001 

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The Database was last updated at Apr 25, 2011