Mutation Details for c.1606A>G

cDNA Name c.1606A>G 
Protein Name p.Lys536Glu 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name K536E 
Other Details  
Contributors E. Rohlfs  
Submitted Phenotype Details parent of a child with a positive newborn screening test 
Reference not published 

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The Database was last updated at Apr 25, 2011