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
2c.80G>Cp.Arg27Thr(N-terminal)MissenseGEFS+No symptom(paternal) 21/2Nicita F.2010