Mutation Details for c.2493G>T

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.2493G>T 
Protein Name p.Glu831Asp 
Exon or Intron  
Other Details This mutation was found in a patient's partner. 
Contributors and Institutes
Alberto Bonizzato - Laboratorio Analisi - Ospedale Civile Maggiore di Verona (Italy)
  
Submitted Phenotype Details  
Reference  

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The Database was last updated at Apr 25, 2011