166848533 GAG/CC: c.5250_5252delinsGG: p.Ser1750Argfs*29: Truncation
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848533 |
| Ref/Alt | GAG/CC |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5250_5252delinsGG |
| cds alteration type | Frame shift indels |
| Zygosis | Heterozygous |
| AA change | p.Ser1750Argfs*29 |
| AA alteration type | Truncation |
| Detection methods | PCR-Sanger, MLPA, allele-specific PCR |
| 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 | Dravet syndrome |
| Gender | Unknown |
| Ethnogenesis | Chinese |
| Family history | Unknown |
| Age of seizure onset | Unknown |
| Short descriptions for Cases | |
| References | Sun, Huihui, et al. "Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome." Journal of human genetics 55.7 (2010): 421. |
| co-existing variant(s) |