Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
4119c.1181C>Ap.Ala394AspDIS5-S6MissenseN→P/﹣(126)GEFS+Maternal uncle FSMyers KA.2017


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
42c.1181C>Ap.Ala394Asp(DIS5-S6)MissenseGEFS+FS(maternal uncle) Myers KA.2017