Mutation Details for c.659A>G

cDNA Name c.659A>G 
Protein Name p.Gln220Arg 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name Q220R 
Other Details Found in a patient with CBAVD. 
Contributors Férec C   1998-12-23
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was identified in a patient with CBAVD. (pers.corr. Ferec) 
Reference Férec 1998 

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The Database was last updated at Apr 25, 2011