Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
142826c.4855A>Gp.Met1619ValDIVS3MissenseN→N (21)IEFamilial(Maternal)Wang JW.2012


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
132c.4855A>Gp.Met1619Val(DIVS3)MissenseIENA(Maternal) Wang JW.2012