Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
130924c.4541T>Cp.Leu1514SerDIII-DIVMissenseN→P/O(145)GEFS+Familial(Maternal,IGE),P=1/1Depienne C.2009


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
121c.4541T>Cp.Leu1514Ser(DIII-DIV)MissenseSMEIIGE(Maternal) 1/1Depienne C.2010