Mutation Details for c.1451A>G

cDNA Name c.1451A>G 
Protein Name p.His484Arg 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name H484R 
Other Details Neonatal screening asymtomatic child at the present time. 
Contributors Férec C   1998-12-23
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was identified ina patient with neonatal hypertrypsinemia.(pers. corr. Ferec) 
Reference Férec 1998 

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The Database was last updated at Apr 25, 2011