Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
49310c.1537delGp.Glu513LysfsX31DI-DIIFrameshiftHaploinsufficiencySMEIFamilial(Paternal,mosaic,SMEB),P=1/1Verbeek NE.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
55c.1537delGp.Glu513LysfsX31(DI-DII)FrameshiftSMEISMEB(Paternal)Mosaic21/1Verbeek NE.2011