Mutation Details for c.396T>G

cDNA Name c.396T>G 
Protein Name p.Ile132Met 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name I132M 
Other Details Found in the wife of a CBAVD patient. It is unclear if the change is a polymorphism or missense mutation. 
Contributors Férec C, Verlingue C, Quere I, Mercier B   1997-06-03
Institute Laboratoire de Biogénétique 
Submitted Phenotype Details No additional clinical info available. (pers. corr. Ferec) 
Reference Férec et al. (NL#69) 

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The Database was last updated at Apr 25, 2011