Mutation Details for c.3262A>G

cDNA Name c.3262A>G 
Protein Name p.Asn1088Asp 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name N1088D 
Other Details This mutation was found in one CF patient with [delta]F508 on the other chromosome and probably associated with R75Q. The patient had sweat chloride of 69 meq/l, pancreatic sufficiency 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