Mutation Details for c.3339T>C

cDNA Name c.3339T>C 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name 3471T/C 
Other Details no change (Ala at 1113; T to C change accompanying Q1071P) 
Contributors Ghanem N, Costes B, Martin J, Goossens M   1992-08-27
Institute Universitaire Henri Mondor Paris, France 
Submitted Phenotype Details Considered as a polymorphism. (pers. corr. Girodon) 
Reference Ghanem et al. 1994 

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The Database was last updated at Apr 25, 2011