Mutation Details for c.895G>A

cDNA Name c.895G>A 
Protein Name p.Ala299Thr 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name A299T 
Other Details Asymptomatic subject. 
Contributors Férec C   1999-01-01
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was identified in an individual with neonatal hypertrypsinemia. (pers.corr. Ferec) 
Reference Férec 1999 

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The Database was last updated at Apr 25, 2011