Mutation Details for c.1584+63_1584+64ins11

cDNA Name c.1584+63_1584+64ins11 
Exon or Intron intron 11 
Legacy Exon or Intron intron 10 
Legacy Name 1716+63ins11nt 
Other Details Asymptomatic neonate 1716+63ins11nt=1716+51dupli11nt 
Contributors Férec C   1998-12-23
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was identified in 2 patients, one with neonatal hypertrypsinemia. (pers.corr. Ferec) 
Reference Férec 1998 

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The Database was last updated at Apr 25, 2011