Mutation Details for c.508_510delCGT

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.508_510delCGT 
Protein Name p.Arg170del 
Exon or Intron  
Other Details  
Contributors and Institutes
Acutual address: Biomedical Research Institute, Universidad de las Américas, Quito, Ecuador, South America. -
Submitted Phenotype Details  
Reference Human Mutation, 1997. Vol 14, 348-250 

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The Database was last updated at Apr 25, 2011