Mutation information:
Notice: Undefined index: c.5347G>A in /home/clients/gzsutao/wwwroot/scn1adatabase/php_function.php on line 89
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
111726c.5347G>A p.Ala1783ThrDIVS6MissenseN→P/O(58)SMEDe novoDjémié et al [Revised version submitted]



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
125c.5347G>Ap.Ala1783Thr(DIVS6)MissenseSMEIGEFS+(Maternal)Mosaic21/1Petrelli C.2012



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