Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
592c.317C>Tp.Ser106PheN-terminalMissenseP/O→N (155)FE(MCDs)Familial(Paternal,epilepsy),P=2/2Barba C.2014



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
8c.317C>Tp.Ser106Phe(N-terminal)MissenseFE(MCDs)Unclassified EP 22/2Barba C.2014



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