Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
148726c.5002C>Gp.Pro1668AlaDIVS4-S5MissenseN→N (27)SMEIFamilial(Maternal,asympt),P=2/3Nabbout R.2003


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
147c.5002C>Gp.Pro1668Ala(DIVS5)MissenseSMEINo symptom(Maternal) 22/3Nabbout R.2003