166848487 AAA/-: c.5296_5298delTTT: p.Phe1766del: Non-frame shift indels
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848487 |
| Ref/Alt | AAA/- |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5296_5298delTTT |
| cds alteration type | Non-frame shift indels |
| Zygosis | Heterozygous |
| AA change | p.Phe1766del |
| AA alteration type | Non-frame shift indels |
| Detection methods | PCR-Sanger |
| 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 | SMEB |
| Gender | Female |
| Ethnogenesis | Japanese |
| Family history | Unknown |
| Age of seizure onset | Unknown |
| Short descriptions for Cases | Corrected c.5266_5268delTTT; p.Phe1756del |
| References | Fukuma, Goryu, et al. "Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)." Epilepsia 45.2 (2004): 140-148. |
| co-existing variant(s) |