166848499 T/G: c.5286A>C: =: VUS
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848499 |
| Ref/Alt | T/G |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5286A>C |
| cds alteration type | Synonymous |
| Zygosis | Heterozygous |
| AA change | = |
| AA alteration type | VUS |
| Detection methods | PCR-Sanger, DHPLC |
| Known variant | Unknown |
| Reference ID | . |
| MAF in 1000G | . |
| MAF in ExAC | . |
| MAF in genomAD | . |
| Exon/Intron | Exon26 |
| Protein Domain | DIVS6 |
| Inheritance | Inherited |
| Variant Classification | Uncertain significance |
| Clinical diagnosis | FS+, Focal seizures |
| Gender | Male |
| Ethnogenesis | Indonesian |
| Family history | Father: Febrile seizure |
| Age of seizure onset | 1 year old |
| Short descriptions for Cases | |
| References | Herini, Elisabeth Siti, et al. "Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients." Epilepsy research 90.1-2 (2010): 132-139. |
| co-existing variant(s) |