Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
4319c.1226T>Gp.Leu409TrpDIS6MissenseN→N (61)SMEIFamilial(Maternal)Wang JW.2012


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
47c.1226T>Gp.Leu409Trp(DIS6)MissenseSMEINA(Maternal) Wang JW.2012