Mutation Details for c.948T>G

cDNA Name c.948T>G 
Protein Name p.Phe316Leu 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name F316L 
Other Details  
Contributors Férec C   2000-09-22
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was found in an asymptomatic partner. (pers.corr. Ferec) 
Reference Férec 2000 

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The Database was last updated at Apr 25, 2011