Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
111526c.5346C>Gp.Ile1782MetDIVS6MissenseN→N (10)SMEIFamilial(Paternal,mosaic,SEHT),P=1/1Depienne C.2009,2010
SMENAVilleneuve N.2014



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
124c.5346C>Gp.Ile1782Met(DIVS6)MissenseSMEISEHT(Paternal)Mosaic(~17%)21/1Depienne C.2010



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