Mutation Details for c.1438G>A

cDNA Name c.1438G>A 
Protein Name p.Gly480Ser 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name G480S 
Other Details The mutation was detected in a 1 year old patient by multiple heteroduplex analysis on the MDE gel matrix. The patient was heterozygous for the A559T mutation. 
Contributors Kawasoe J, Tsui L-C, Zielenski J   2001-06-29
Institute Hospital for Sick Children Toronto, Canada 
Submitted Phenotype Details  
Reference Kawasoe et al. 2001 

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The Database was last updated at Apr 25, 2011