Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
120422c.4298G>Tp.Gly1433ValDIIIS5-S6MissenseN→N (109)SMEIFamilial(Paternal)Zuberi SM.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
114c.4298G>Tp.Gly1433Val(DIIIS5-S6)MissenseSMEINA (Paternal) Zuberi SM.2011