Mutation Details for c.3252A>G

cDNA Name c.3252A>G 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name 3384A/G 
Other Details no change (Leu at 1084) 
Contributors Bienvenu T, Bousquet S, Beldjord C, Kaplan JC   1995-06-28
Institute Groupe Hospitalier Cochin, Paris 
Submitted Phenotype Details  
Reference Bienvenu et al. (NL#66) 

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The Database was last updated at Apr 25, 2011