Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
4339c.1234T>Ap.Phe412IleDIS6MissenseN→N (21)SMEBFamilial(Paternal,asympt)Ebrahimi A.2010
GEFS+NATonekaboni SH.2013


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
48c.1234T>Ap.Phe412Ile(DIS6)MissenseSMEBNo symptom(Paternal) Ebrahimi A.2010