Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
176026c.5864T>Cp.Ile1955ThrC-terminalMissenseN→P/O (89)GEFS+Familial(Paternal,asympt),P=1/2Polizzi A.2012
ASDNAWeiss LA.2003


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
173c.5864T>Cp.Ile1955ThrC-terminal)MissenseGEFS+No symptom (Paternal) 21/2Polizzi A.2012