Mutation Details for c.577G>T

cDNA Name c.577G>T 
Protein Name p.Glu193X 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name E193X 
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 Sanguine 
Submitted Phenotype Details The mutation was identified in a Fernch CF patient (male, 30y) carrying S1251N on the other allele. (pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#62) 

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The Database was last updated at Apr 25, 2011