Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
128824c.4494C>G p.Ile1498Met DIII-DIV Missense N→N (10)FHM Familial(Paternal,FHM),P=3/3 Weller CM.2014


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
119c.4494C>Gp.Ile1498Met(DIII-DIV)Missense FHM FHM(Paternal) 4 Weller CM.2014