Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
3948c.1162T>Cp.Tyr388HisDIS5-S6MissenseP/O→P/﹢(83) SMEIFamilial(Paternal,GEFS+),P=10/10Mahoney K.2009
GEFS+NABennett CA.2017


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
41c.1162T>Cp.Tyr388His(DIS5-S6)MissenseSMEIGEFS+(Paternal) 10/10Mahoney K.2009