Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
78815c.2917A>Gp.Met973ValDIIS6MissenseN→N (21)CGE(FS)Familial(Paternal,asympt),P=1/2Harkin LA.2007


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
83c.2917A>Gp.Met973Val(DIIS6)MissenseCGENo symptom(Paternal) 21/2Harkin LA.2007