Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
3478c.1066A>Gp.Arg356GlyDIS5-S6MissenseP/﹢→N (125)SMEBFamilialMarini C.2007


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
38c.1066A>Gp.Arg356Gly(DIS5-S6)MissenseSMEBNA Marini C.2007