Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
299IVS6c.965-2A>C DIS5-S6Splice acceptor siteNDSMEIFamilial(Paternal,mosaic,asympt),P=2/2Depienne C.2006


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
34c.965-2A>CND(DIS5-S6)Splice acceptor siteSMEINo symptom(Paternal)Mosaic(5~10%)22/2Depienne C.2006