Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
113221c.4135G>Tp.Val1379LeuDIIIS5-S6MissenseN→N (32)PEFS+Familial(Maternal,GEFS+),P=4/4Mhanni AA.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
108c.4135G>Tp.Val1379Leu(DIIIS5-S6)MissensePEFS+GEFS+(Maternal) 24/4Mhanni AA.2011