Mutation Details for c.137C>T

cDNA Name c.137C>T 
Protein Name p.Ala46Val 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name A46V 
Other Details  
Contributors E. Rohlfs  
Submitted Phenotype Details positive newborn screening test 
Reference not published 

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The Database was last updated at Apr 25, 2011