Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
145226c.4921G>Ap.Ala1641ThrDIVS4MissenseN→P/O (58)SMEImaternal,MOSAICYang X.2017


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
138c.4921G>Ap.Ala1641Thr(DIVS4)MissenseSMEINo symptom(maternal)mosaic (20.30%) Zhang YH.2017