Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1334IVS24c.4581+3A>T DIII-DIVSplice donor siteNDSMEI/UnclassifiedFamilial(Paternal);NAZuberi SM.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
123c.4581+3A>TND(DIVS1)Splice donor siteSMEINA (Paternal) Zuberi SM.2011