Mutation Details for c.926C>T

cDNA Name c.926C>T 
Protein Name p.Ala309Val 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name A309V 
Other Details  
Contributors Ferec C.   2002-01-01
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in an individual with persistent neonatal hypertrypsinemia. (pers. corr. Ferec) 

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The Database was last updated at Apr 25, 2011