Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
162826c.5346C>Gp.Ile1782MetDIVS6MissenseN→N (10)SMEIFamilial(Paternal,mosaic,SEHT),P=1/1Depienne C.2009,2010
SMENAVilleneuve N.2014


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
161c.5346C>Gp.Ile1782Met(DIVS6)MissenseSMEISEHT(Paternal)Mosaic(~17%)21/1Depienne C.2010