Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
151326c.5045T>Cp.Phe1682Ser DIVS5MissenseN→P/O(155)SMEIFamilial(Paternal,FS),P=2/2Fukuma G.2004


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
150c.5045T>Cp.Phe1682Ser (DIVS5)MissenseSMEIFS(Paternal) 22/2Fukuma G.2004