Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
102226c.4991T>Ap.Met1664LysDIVS4-S5MissenseN→P/﹢(95)SMEIFamilial(Maternal,FS),P=4/4Depienne C.2009



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
111c.4991T>Ap.Met1664Lys(DIVS4-S5)MissenseSMEIFS(Maternal) ≥34/4Depienne C.2009



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