Mutation Details for c.1039C>T

cDNA Name c.1039C>T 
Protein Name p.Arg347Cys 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R347C 
Other Details This mutation was identified by DGGE and direct sequencing. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP< Raguenes O, Guillermit H, Mercier B   1993-06-29
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in an asymptomatic relative of a CF patient. (pers.corr.Ferec) 
Reference FĂ©rec et al. (NL#56) 

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The Database was last updated at Apr 25, 2011