Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
40513c.2378C>Tp.Thr793MetDIIS1-S2MissenseP/O→N (81)SMEIFamilial(Maternal,asympt),P=1/2Kwong AK.2012



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
45c.2378C>Tp.Thr793Met(DIIS1-S2)MissenseSMEINo symptom(Maternal) 21/2Kwong AK.2012



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