Mutation Details for c.597T>G

cDNA Name c.597T>G 
Protein Name p.His199Gln 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name H199Q 
Other Details This alteration does not affect a restriciton site so we are testing an ASO. 
Contributors Dean M, Belle White M, Gerrard B   1990-09-30
Institute National Cancer Institute Frederick, MD, USA 
Submitted Phenotype Details  
Reference Dean et al. (NL#28) 

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The Database was last updated at Apr 25, 2011