Mutation Details for c.3953T>C

cDNA Name c.3953T>C 
Protein Name p.Val1318Ala 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name V1318A 
Other Details CBAVD. 
Contributors Férec C   1998-12-23
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details no additional clinical data available (pers.corr. Ferec) 
Reference Férec 1998 

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The Database was last updated at Apr 25, 2011