Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
201c.80G>Cp.Arg27ThrN-terminalMissenseN→P/﹢(112)GEFS+Familial(Paternal,asympt),P=1/2Nicita F.2010
SMEBNACatarino CB.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
1c.17T>Cp.Leu6Pro(N-terminal)MissenseGEFS+No symptom(Paternal) 21/2Cetica V.2017