Mutation Details for c.2876C>T

cDNA Name c.2876C>T 
Protein Name p.Ala959Val 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name A959V 
Other Details  
Contributors Girodon et al.   2003-05-30
Institute Service de Biochimie-Genetique Hopital Henri-Mondor,France 
Submitted Phenotype Details The mutation was found in a 22y M, diagnosed at 21y with CBAVD, PS (pers. corr. Girodon) 
Reference Girodon et al. 2003 

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The Database was last updated at Apr 25, 2011