Mutation Details for c.4040G>T

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.4040G>T 
Protein Name p.Ser1347Ile 
Exon or Intron  
Other Details CBAVD 
Contributors and Institutes
Dr. Firuza R. Parikh -
Submitted Phenotype Details  

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The Database was last updated at Apr 25, 2011