Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
58716c.3250A>Tp.Ser1084CysDII-DIIIMissenseP/O→N (112)JME(No FS)Familial(Paternal,JME),P=2/2Jingami N.2014



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
61c.3250A>Tp.Ser1084Cys(DII-DIII)MissenseJMEJME(Paternal) 22/2Jingami N.2014



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