Mutation Details for c.1516A>C

cDNA Name c.1516A>C 
Protein Name p.Ile506Leu 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name I506L 
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 103 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 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