Mutation Details for c.190A>G

cDNA Name c.190A>G 
Protein Name p.Lys64Glu 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name K64E 
Other Details  
Contributors Girodon et al.   2003-05-30
Institute Service de Biochimie-Genetique Hopital Henri-Mondor,France 
Submitted Phenotype Details The 32y F is considered as a CF carrier, partner of a CBAVD patient (pers. corr. Girodon) 
Reference Girodon et al. 2003 

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The Database was last updated at Apr 25, 2011