Mutation Details for c.287C>A

cDNA Name c.287C>A 
Protein Name p.Ala96Glu 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name A96E 
Other Details This mutation was found in a Turkish patient. 
Contributors Férec C   1998-01-01
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details One Turkish homozygous patient. (pers.corr. Ferec) 
Reference Férec 1998 

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The Database was last updated at Apr 25, 2011