Mutation Details for c.3239A>G

cDNA Name c.3239A>G 
Protein Name p.Lys1080Arg 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name K1080R 
Other Details Mutation/variant was found in unaffected individual. 
Contributors Li Zhenzhong , Kawasoe J, Liu XD, Zielenski J,   2003-06-02
Institute Hospital for Sick Children, Toronto, Canada 
Submitted Phenotype Details  

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The Database was last updated at Apr 25, 2011