Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1926c.890C>Tp.Thr297IleDIS5-S6MissenseP/O→N (89)SMEIFamilial(Maternal,asympt),P=2/2Nabbout R.2003



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
24c.890C>Tp.Thr297Ile(DIS5-S6)MissenseSMEINo symptom(Maternal) 22/2Nabbout R.2003



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