Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
95718c.3688C>Tp.Leu1230PheDIIIS1MissenseN→N (22)GEFS+Familial(Maternal)Zuberi SM.2011
SMEINAZuberi SM.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
94c.3688C>Tp.Leu1230Phe(DIIIS1)MissenseGEFS+NA (Maternal) Zuberi SM.2011