166848476 A/T: c.5309T>A: p.Ile1770Asn: Missense
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848476 |
| Ref/Alt | A/T |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5309T>A |
| cds alteration type | Non-synonymous |
| Zygosis | Heterozygous |
| AA change | p.Ile1770Asn |
| AA alteration type | Missense |
| Detection methods | Unknown |
| Known variant | Unknown |
| Reference ID | . |
| MAF in 1000G | . |
| MAF in ExAC | . |
| MAF in genomAD | . |
| Exon/Intron | Exon26 |
| Protein Domain | DIVS6 |
| Inheritance | Unknown |
| Variant Classification | Uncertain significance |
| Clinical diagnosis | Epilepsy |
| Gender | Male |
| Ethnogenesis | Unknown |
| Family history | Paternal grandfather: seizures |
| Age of seizure onset | 3 months old |
| Short descriptions for Cases | |
| References | Tang, Shan, et al. "Encephalopathy and SCN1A mutations." Epilepsia 52.4 (2011). |
| co-existing variant(s) |