Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
121326c.5962C>Tp.Arg1988Trp C-terminal Missense P/﹢→N (101)Epilepsy-aphasia with FS+ Familial(Paternal,Epilepsy-aphasia with FS),P=3/3 Carvill GL.2013



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
136c.5962C>Tp.Arg1988Trp(C-terminal)MissenseEA with FS+EA with FS(Paternal) 33/3Carvill GL.2013



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