Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
59813c.2284A>Gp.Asn762AspDI-DIIMissenseP/O→P/﹣(23)SMEIFamilial(Paternal)Zuberi SM.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
65c.2284A>Gp.Asn762Asp(DIIS1)MissenseSMEINA (Paternal) Zuberi SM.2011