Mutation Details for c.3485_3486delGA

cDNA Name c.3485_3486delGA 
Protein Name p.Val1163LeufsX2 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3617delGA 
Other Details This mutation was present in a male patient in conjunction with 1154insTC  
Contributors Huang Q, Yuan XW and Zielenski J   2008-07-11
Institute Department of Genetics and Genome Biology The Hospital for Sick Children, Toronto, Canada 
Submitted Phenotype Details  
Reference  

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The Database was last updated at Apr 25, 2011