Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
115721c.4240A>Gp.Asn1414AspDIIIS5-S6MissenseP/O→P/﹣(23)GEFS+Familial(Paternal)Zuberi SM.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
111c.4240A>Gp.Asn1414Asp(DIIIS5-S6)MissenseGEFS+NA (Paternal) Marini C.2007