Mutation Details for c.1510G>T

cDNA Name c.1510G>T 
Protein Name p.Glu504X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name E504X 
Other Details The mutation E504X was detected by SSCA and direct sequencing in a CF patient from Brazil (Afro-American origin). 
Contributors Casals T, Gimenez J, Ramos M D, Nunes V, Estivill X, Faucz F, Raskin S,   1997-01-31
Institute IRO, Barcelona, Spain Lab. Genetika, Curitiba, Brazil 
Submitted Phenotype Details No additional clinical information available. (pers. corr. Casals) 
Reference Casals et al. (NL#69) 

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The Database was last updated at Apr 25, 2011