Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
119926c.5734C>Tp.Arg1912XC-terminalNonsenseHaploinsufficiencySMEIDe novoFukuma G.2004
SMEIFamilial(Paternal,mosaic,asympt),P=1/1Depienne C.2009,2010
SMEIDe novoDepienne C.2009,2010
SMEINAOzmen M.2011
SMEIDe novoReyes IS.2011
SMEINAWang JW.2012
SMEBNAWang JW.2012



Notice: Undefined index: same_functional_utr_studies_point in /home/clients/gzsutao/wwwroot/scn1adatabase/for_show_relative.php on line 34

Notice: Undefined index: same_eletro_point in /home/clients/gzsutao/wwwroot/scn1adatabase/for_show_relative.php on line 56

Notice: Undefined index: same_splicing_point in /home/clients/gzsutao/wwwroot/scn1adatabase/for_show_relative.php on line 79
Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
132c.5734C>Tp.Arg1912X(C-terminal)NonsenseSMEINo symptom(Paternal)Mosaic(~9%)21/1Depienne C.2010



Notice: Undefined index: same_clinic_point in /home/clients/gzsutao/wwwroot/scn1adatabase/for_show_relative.php on line 228