Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
63814c.2523_2524delGCp.Thr841fsx1DIIS3FrameshiftHaploinsufficiencySMEFamilial(Paternal,EP),P=2/2Xu XJ.2012b


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
70c.2523_2524delGCp.Thr841fsx1(DIIS3)FrameshiftSMEIEP(Paternal) 2 2/2Xu XJ.2012b