Mutation Details for c.579+3A>C

cDNA Name c.579+3A>C 
Exon or Intron intron 5 
Legacy Exon or Intron intron 5 
Legacy Name 711+3A->C 
Other Details The 711+3 A->C mutation was detected in a 64 year old femlae Caucasian Cf patient. This mutation is compunded with another yet unidentified CF allele. The A->C change at this site is predicted to cause abnormal splicing. The diagnosis of Cystic Fibrosis in the patient is based on the history of Bronchiectasis and Pseudomonas bronchitis, together with chronic sinusitis and nasal polyposis. The chest X-ray findings were also typical for CF. She is pancreatic sufficient nad has an excellent nutritional status. Her sweat concentration is 85 mM.  
Contributors Macek MJr Mackova A, Sedriks SE, Cutting GR   1994-03-15
Institute Center for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details The CF patient was PS, sweat chloride 85 mmol/l, has chronic lung disease and sinusitis and nasal polyposis. (pers.corr.Macek) 
Reference Macek MJr et al. (NL#61) 

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The Database was last updated at Apr 25, 2011