Mutation Details for c.1687T>G

cDNA Name c.1687T>G 
Protein Name p.Tyr563Asp 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name Y563D 
Other Details The Y563D mutation was detected on one African-American CF chromosome of 50 screened. It was not detected on any of 208 normal African-American chromosomes by ASO analysis. The patient is a 9 year old pancreatic insufficient male with mild lung disease. 
Contributors Hamosh A, Kiesewetter S, Macek MJr, Davis C, Cutting GR   1993-03-17
Institute Johns Hopkins Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Hamosh et al. (NL#54) 

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The Database was last updated at Apr 25, 2011