166848605 T/C: c.5180A>G: p.Asp1727Gly: Missense
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848605 |
| Ref/Alt | T/C |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5180A>G |
| cds alteration type | Non-synonymous |
| Zygosis | Heterozygous |
| AA change | p.Asp1727Gly |
| AA alteration type | Missense |
| Detection methods | PCR-Sanger, MLPA |
| 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 | SMEI |
| Gender | Female |
| Ethnogenesis | Unknown |
| Family history | Unknown |
| Age of seizure onset | Unknown |
| Short descriptions for Cases | |
| References | Wang, Ji-wen, et al. "Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy." Epilepsy research 102.3 (2012): 195-200. |
| co-existing variant(s) |