166848474 T/A: c.5311A>T: p.Ile1771Phe: Missense
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848474 |
| Ref/Alt | T/A |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5311A>T |
| cds alteration type | Non-synonymous |
| Zygosis | Heterozygous |
| AA change | p.Ile1771Phe |
| 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 | De novo |
| Variant Classification | Uncertain significance |
| Clinical diagnosis | Focal epilepsy |
| Gender | Female |
| Ethnogenesis | Unknown |
| Family history | Unknown |
| Age of seizure onset | 5 months old |
| Short descriptions for Cases | |
| References | Okumura, A., et al. "Focal epilepsy resulting from a de novo SCN1A mutation." Neuropediatrics 38.05 (2007): 253-256. |
| co-existing variant(s) |