Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
76921c.4101T>Ap.Asn1367LysDIIIS5-S6MissenseP/O→P/﹢ (94)SME(Late-onset)Familial(Paternal,IGE),P=1/1Depienne C.2009



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
77c.4101T>Ap.Asn1367Lys(DIIIS5-S6)MissenseSMEIIGE(Paternal) 21/1Depienne C.2009



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