166848519 A/C: c.5266T>G: p.Cys1756Gly: Missense
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848519 |
| Ref/Alt | A/C |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5266T>G |
| cds alteration type | Non-synonymous |
| Zygosis | Heterozygous |
| AA change | p.Cys1756Gly |
| AA alteration type | Missense |
| Detection methods | PCR-Sanger, DHPLC |
| Known variant | Known |
| Reference ID | rs121918809 |
| MAF in 1000G | . |
| MAF in ExAC | . |
| MAF in genomAD | . |
| Exon/Intron | Exon26 |
| Protein Domain | DIVS5S6 loop |
| Inheritance | Unknown |
| Variant Classification | Uncertain significance |
| Clinical diagnosis | SMEB |
| Gender | Male |
| Ethnogenesis | Indonesian |
| Family history | Maternal cousin: Febrile seizure |
| Age of seizure onset | 3 months old |
| Short descriptions for Cases | |
| References | Herini, Elisabeth Siti, et al. "Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients." Epilepsy research 90.1-2 (2010): 132-139. |
| co-existing variant(s) |