Mutation Details for c.1040G>C

cDNA Name c.1040G>C 
Protein Name p.Arg347Pro 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R347P 
Other Details This mutation destroys a Hha I restriciton site and creates an NcoI site and occurred in a family diagnosed as PS. The mutation have been identified and analyzed using the SSCP technique. 
Contributors Dean M, White MB, Gerrard B, Stewart C   1990-02-08
Institute NCI Frederick, USA 
Phenotype Information CFTR2
Reference Dean et al. (NL #6) 

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The Database was last updated at Apr 25, 2011