Mutation Details for c.862_869+1delTTAAGACAG

cDNA Name c.862_869+1delTTAAGACAG 
Protein Name p.Leu288fsX? 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name 994del9 
Other Details This mutation was found in one CF patient with [delta]F508 on the other chromosome. The patient had sweat chloride of 134 meq/l, pancreatic insufficiency and moderate 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 No additional clinical data available. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#70) 

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The Database was last updated at Apr 25, 2011