Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
68415c.2624C>Ap.Thr875LysDIIS4MissenseP/O→P/﹢(78) SMEFamilial(Paternal)Depienne C.2009
NADepienne C.2009
GEFS+Familial(Paternal),P=17/18,Affected generations:3Kivity S.2017


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
76c.2624C>Ap.Thr875Lys(DIIS4)MissenseSMENA(Paternal) Depienne C.2009