166848525 C/T: c.5260G>A: p.Gly1754Arg: Missense
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848525 |
| Ref/Alt | C/T |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5260G>A |
| cds alteration type | Non-synonymous |
| Zygosis | Heterozygous |
| AA change | p.Gly1754Arg |
| AA alteration type | Missense |
| Detection methods | PCR-Sanger, MLPA, DHPLC |
| Known variant | Unknown |
| Reference ID | . |
| MAF in 1000G | . |
| MAF in ExAC | . |
| MAF in genomAD | 0 |
| Exon/Intron | Exon26 |
| Protein Domain | DIVS5S6 loop |
| Inheritance | De novo |
| Variant Classification | Uncertain significance |
| Clinical diagnosis | Dravet syndrome |
| Gender | Female |
| Ethnogenesis | Unknown |
| Family history | Unknown |
| Age of seizure onset | 6 months old |
| Short descriptions for Cases | |
| References | Petrelli, Cristina, et al. "Early clinical features in Dravet syndrome patients with and without SCN1A mutations." Epilepsy research 99.1-2 (2012): 21-27. |
| co-existing variant(s) |