Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
147226c.4973C>Gp.Thr1658ArgDIVS4-S5MissenseP/O→P/﹢(71)SMEBDe novoMarini C.2007
SMEIFamilial(Maternal)Depienne C.2009


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
143c.4973C>Gp.Thr1658Arg(DIVS4-S5)MissenseSMEINA(Maternal) Depienne C.2009