Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
96525c.4787G>Ap.Arg1596HisDIVS2-S3MissenseP/﹢→P/﹢(29)GEFS+Familial(Paternal)Zuberi SM.2011
GEFS+Familial (Paternal, FS+EP)Hoffman-Zacharska D.2015
PEFamilial (Paternal,FS)Hoffman-Zacharska D.2015



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
97c.4787G>Ap.Arg1596His(DIVS2-S3)MissenseGEFS+NA (Paternal) Zuberi SM.2011



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