Mutation Details for c.165-3C>A

cDNA Name c.165-3C>A 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 297-3C->A 
Other Details The mutation was found in one Swedish CF patient by multiplex heteroduplex analysis on an MDE gel. The patient carried [delta]F508 on the other allele; the patient had sweat chloride of 90 meq/l, pancreatic sufficient, and mild lung disease.  
Contributors Zielenski J, Tzountzouris J, Tsui L-C, Bjorck E, Strandvik B, Wahlstrom J   1998-03-18
Institute The Hospital for Sick Children, Toronto, Canada Sahlgrenska University Hospital East Gothenberg, Sweden 
Submitted Phenotype Details The patient is PS, has mild pulmonary symptoms and sweat chloride of 90 mmol/l and carries deltaF508 on the other allele. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#70) 

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The Database was last updated at Apr 25, 2011