Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
3688c.1118delTp.Leu373Cysfsx6DIS5-S6FrameshiftHaploinsufficiencySMEIFamilial(Paternal,FS+),P=2/2Xu XJ.2012a


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
39c.1118delTp.Leu373Cysfsx6(DIS5-S6)FrameshiftSMEIFS+(Paternal)Mosaic22/2Xu XJ.2012a