166848129 G/A: c.5656C>T: p.Arg1886*: Truncation
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848129 |
| Ref/Alt | G/A |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5656C>T |
| cds alteration type | Nonsense |
| Zygosis | Heterozygous |
| AA change | p.Arg1886* |
| AA alteration type | Truncation |
| Detection methods | PCR-Sanger |
| Known variant | Known |
| Reference ID | rs779614747 |
| MAF in 1000G | . |
| MAF in ExAC | . |
| MAF in genomAD | . |
| Exon/Intron | Exon26 |
| Protein Domain | C-terminus |
| Inheritance | De novo |
| Variant Classification | Pathogenic |
| Clinical diagnosis | SMEI |
| Gender | Unknown |
| Ethnogenesis | Unknown |
| Family history | Unknown |
| Age of seizure onset | Unknown |
| Short descriptions for Cases | |
| References | Margherita Mancardi, Maria, et al. "Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations." Epilepsia 47.10 (2006): 1629-1635. |
| co-existing variant(s) |