Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
83622c.4298G>Tp.Gly1433ValDIIIS5-S6MissenseN→N (109)SMEIFamilial(Paternal)Zuberi SM.2011



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
85c.4298G>Tp.Gly1433Val(DIIIS5-S6)MissenseSMEINA (Paternal) Zuberi SM.2011



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