Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
62IVS1c.265-3C>T N-terminalSplice acceptor siteNDGEFS+Familial(Maternal)Zuberi SM.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
5c.265-3C>TND(DIS3)Splice acceptor siteGEFS+NA (Maternal) Zuberi SM.2011