Mutation Details for c.1399C>T

cDNA Name c.1399C>T 
Protein Name p.Leu467Phe 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1531C/T (L467F) 
Other Details Leu or Phe at 467 
Contributors Ghanem N, Costes B, Fanen P, Goossens M   1992-02-17
Institute Centre Hospitalier Universitaire Henri Mondor Paris, France 
Submitted Phenotype Details No additional clinical data available. (pers. corr. Girodon) 
Reference Ghanem et al. (NL#42) 

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The Database was last updated at Apr 25, 2011