166848206 T/GGAGA: c.5579delinsTCTCC: p.Asp1860Valfs*8: Truncation
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848206 |
| Ref/Alt | T/GGAGA |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5579delinsTCTCC |
| cds alteration type | Frame shift indels |
| Zygosis | Heterozygous |
| AA change | p.Asp1860Valfs*8 |
| AA alteration type | Truncation |
| Detection methods | PCR-Sanger, MLPA, DHPLC |
| Known variant | Unknown |
| Reference ID | . |
| MAF in 1000G | . |
| MAF in ExAC | . |
| MAF in genomAD | . |
| Exon/Intron | Exon26 |
| Protein Domain | C-terminus |
| Inheritance | De novo |
| Variant Classification | Uncertain significance |
| Clinical diagnosis | SMEB |
| Gender | Female |
| Ethnogenesis | Italian |
| Family history | Negative |
| Age of seizure onset | 7 months old |
| Short descriptions for Cases | |
| References | Nicita, Francesco, et al. "Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy)." Journal of child neurology 25.11 (2010): 1369-1376. |
| co-existing variant(s) |