Mutation Details for c.254G>T

cDNA Name c.254G>T 
Protein Name p.Gly85Val 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name G85V 
Other Details The patient with G85V carried G542X on the other chromosome, and presented mild phenotype with PI. 
Contributors Casals T, Ramos M D, Gimenez J, Nunes V, Estivill X   1995-08-03
Institute IRO, Spain 
Submitted Phenotype Details One patient (18y, male) diagnosed at 3y, PI, severe lung disease (FEV1=32%). G542X was found on the other allele. This mutations was found in 5 other CF patients. (Pers. corr. Casals; Casals et al. 1997)  
Reference Casals et al. (NL#67) 

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The Database was last updated at Apr 25, 2011