166848539 C/T: c.5246G>A: p.Gly1749Glu: Missense
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848539 |
| Ref/Alt | C/T |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5246G>A |
| cds alteration type | Non-synonymous |
| Zygosis | Heterozygous |
| AA change | p.Gly1749Glu |
| AA alteration type | Missense |
| Detection methods | PCR-Sanger, DHPLC |
| Known variant | Known |
| Reference ID | rs121918798 |
| MAF in 1000G | . |
| MAF in ExAC | . |
| MAF in genomAD | . |
| Exon/Intron | Exon26 |
| Protein Domain | DIVS5S6 loop |
| Inheritance | De novo |
| Variant Classification | Uncertain significance |
| Clinical diagnosis | SMEI |
| Gender | Unknown |
| Ethnogenesis | Unknown |
| Family history | Maternal grandmother: epilepsy |
| Age of seizure onset | 8 months old |
| Short descriptions for Cases | |
| References | Claes, Lieve, et al. "De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy." Human mutation 21.6 (2003): 615-621. |
| co-existing variant(s) |