166848563 C/G: c.5222G>C: p.Cys1741Ser: Missense
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848563 |
| Ref/Alt | C/G |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5222G>C |
| cds alteration type | Non-synonymous |
| Zygosis | Heterozygous |
| AA change | p.Cys1741Ser |
| AA alteration type | Missense |
| Detection methods | PCR-Sanger, WES |
| Known variant | Unknown |
| Reference ID | . |
| 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 | Lennox-Gastaut Syndrome, Dravet syndrome |
| Gender | Male |
| Ethnogenesis | Unknown |
| Family history | Unknown |
| Age of seizure onset | 6 months old |
| Short descriptions for Cases | |
| References | Allen, Andrew S., et al. "De novo mutations in epileptic encephalopathies." Nature 501.7466 (2013): 217. |
| co-existing variant(s) |