Mutation Details for c.581G>T

cDNA Name c.581G>T 
Protein Name p.Gly194Val 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name G194V 
Other Details This mutation was found in a patient with CBAVD. 
Contributors Férec C   1998-01-01
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was found in a CBAVD patient (pers corr. Ferec) 
Reference Férec 1998 

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The Database was last updated at Apr 25, 2011