Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
912c.332T>Ap.Leu111XN-terminalNonsenseHaploinsufficiencyEP and NDDmosaic pathogenic variantStosser MB.2018
Ep and/or NDDNALindy AS.2018


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
15c.332T>Ap.Leu111X(N-terminal)NonsenseEp and NDDNo symptom(paternal)mosaic (20.2%) 1/2Stosser MB.2018