Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
166526c.5483T>Cp.Leu1828SerC-terminalMissenseN→P/O(145)NADe novoL?fgren A.2010(unpublished)
Neurodevelopmental disorder, epilepsy-relatedFamilial.more severe compared with proband)Stosser MB.2018


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
164c.5483T>Cp.Leu1828Ser(C-terminal)MissenseEp and NDDAffected (more severe compared with proband)mosaic (18.1%) Stosser MB.2018