Mutation Details for c.1196C>T

cDNA Name c.1196C>T 
Protein Name p.Ala399Val 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name I1328T 
Other Details This mutation was present in a CBAVD patient in conjunction with R347P 
Contributors Huang Q, Yuan XW and Zielenski J   2008-07-11
Institute Department of Genetics and Genome Biology The Hospital for Sick Children, Toronto, Canada 
Submitted Phenotype Details  

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The Database was last updated at Apr 25, 2011