166848599 A/AA: c.5186dupT: p.Leu1729Phefs*9: Truncation
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848599 |
| Ref/Alt | A/AA |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5186dupT |
| cds alteration type | Frame shift indels |
| Zygosis | Heterozygous |
| AA change | p.Leu1729Phefs*9 |
| AA alteration type | Truncation |
| Detection methods | PCR-Sanger |
| 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 | Male |
| Ethnogenesis | Unknown |
| Family history | Unknown |
| Age of seizure onset | 1 year old |
| Short descriptions for Cases | |
| References | Depienne, Christel, et al. "Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients." Journal of medical genetics (2008). |
| co-existing variant(s) |