Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
60113c.2306T>Ap.Phe769TyrDIIS1MissenseN→P/O (22)GEFS+Familial.Paternal,asympt),P=1/3Cetica V.2017


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
66c.2306T>Ap.Phe769Tyr(DIIS1)MissenseGEFS+No symptom(paternal) 21/3Cetica V.2017