Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
86916c.3250A>Tp.Ser1084CysDII-DIIIMissenseP/O→N (112)JME(No FS)Familial(Paternal,JME),P=2/2Jingami N.2014


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
88c.3250A>Tp.Ser1084Cys(DII-DIII)MissenseJMEJME(Paternal) 22/2Jingami N.2014