Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1005IVS19c.3880-1G>A DIIIS3Splice acceptor siteNDSMEIDe novoL?fgren A.2010(unpublished)
SMEFamilial(Paternal,mosaic,asympt)Verbeek NE.2013


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
72c.3880-1G>AND(IVS19)Splice acceptor siteSMENo symptom(Paternal)Mosaic Verbeek NE.2013