Mutation Details for c.2551C>T

cDNA Name c.2551C>T 
Protein Name p.Arg851X 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name R851X 
Other Details The nonsense mutation was identified in a Utah family. The mutation was detected on SSCP gels using the previously reported primers, and identified by direct sequencing. It was not found on 225 non-[delta]F508 CF chromosomes. This mutation detroys a TaqI site. 
Contributors Dean M, White MB, Gerrard B, Stewart C   1990-06-05
Institute National Cancer Institute, Frederick, MD, USA 
Phenotype Information CFTR2
Reference White et al. 1991b 

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The Database was last updated at Apr 25, 2011