Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
64818c.3688C>Tp.Leu1230PheDIIIS1MissenseN→N (22)GEFS+Familial(Maternal)Zuberi SM.2011
SMEINAZuberi SM.2011



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
66c.3688C>Tp.Leu1230Phe(DIIIS1)MissenseGEFS+NA (Maternal) Zuberi SM.2011



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