Mutation Details for c.508C>T

cDNA Name c.508C>T 
Protein Name p.Arg170Cys 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name R170C 
Other Details This mutation was identified on one French CF chromosome. 
Contributors Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet M-P, Mercier B   1994-04-22
Institute Centre Departemental de Transfusion Snaguine 
Submitted Phenotype Details The individual (female, 17y) was suspected since 8 of CF. Her sweat chloride is 23 mmol/l and she has no other mutation identified. (pers.corr. Ferec) 
Reference F?rec et al. (NL#62) 

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The Database was last updated at Apr 25, 2011