Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
174826c.5768A>Gp.Gln1923ArgC-terminalMissenseP/﹣→P/﹢ (43)PEFS+Familial(Paternal,mosaic,FS),P=3/3Shi YW.2012
Epilepsy and/or NDDNALindy AS.2018
PEFS+NAJiao J.2013
PEFS+NALiu J.2016


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
171c.5768A>Gp.Gln1923Arg(C-terminal)MissensePEFS+FS(Paternal)Mosaic(~22.8%)23/3Shi YW.2012