Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
2906c.940T>Cp.Trp314ArgDIS5-S6MissenseN→P/﹢(101)MAEFamilial(Maternal)Zuberi SM.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
33c.940T>Cp.Trp314Arg(DIS5-S6)MissenseMAENA (Maternal) Zuberi SM.2011