Mutation Details for c.2490+2_2490+7delTAGGTA

cDNA Name c.2490+2_2490+7delTAGGTA 
Exon or Intron intron 14 
Legacy Exon or Intron intron 13 
Legacy Name 2622+2del6 
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 102 meq/l, pancreatic insufficient, and moderate lung disease.  
Contributors Zielenski J, Tzountzouris J, Tsui L-C, Bjorck E, Strandvik B, Wahlstrom J   1998-03-19
Institute The Hospital for Sick Children, Toronto, Canada Sahlgrenska University Hospital East Gothenburg, Sweden 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#70) 

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The Database was last updated at Apr 25, 2011