Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
139325c.4781C>Ap.Ser1594TyrDIVS2MissenseP/O→P/O (144)Abnormality of the nervous systemFamilial.Paternal,asympt),Retterer K.2016
Abnormality of the nervous systemFamilial.Paternal,asympt),Stosser MB.2018


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
127c.4781C>Ap.Ser1594Tyr(DIVS2)MissenseEp and NDDNo symptom(paternal)mosaic(15.8%)21/2Stosser MB.2018