Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
47810c.1458_1465delCTCTAAGTp.Ser487GlufsX6DI-DIIFrameshiftHaploinsufficiencySMEIParental mosaicism.2/2Sharkia R.2016


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
53c.1458_1465delCTCTAAGTp.Ser487GlufsX6(DI-DII)In-frame deletionSMEINo symptom(paternal)mosaic2( two affected siblings)2/2Sharkia .2016