Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1143c.412_413delATp.Ile138PhefsX11DIS1FrameshiftHaploinsufficiencySMEIFamilial(Paternal)Zuberi SM.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
17c.412_413delATp.Ile138PhefsX11(DIS1)FrameshiftSMEINA (Paternal) Zuberi SM.2011