Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
45915c.2624C>Ap.Thr875LysDIIS4MissenseP/O→P/﹢(78) SMEFamilial(Paternal)Depienne C.2009
NADepienne C.2009



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
51c.2624C>Ap.Thr875Lys(DIIS4)MissenseSMENA(Paternal) Depienne C.2009



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