166848560 T/C: c.5225A>G: p.Asp1742Gly: Missense
| Reference genomes | Human GRCh37/hg19 |
|---|---|
| Genomic position | 166848560 |
| Ref/Alt | T/C |
| Genbank transcript ID | NM_001165963.1 |
| cds change | c.5225A>G |
| cds alteration type | Non-synonymous |
| Zygosis | Heterozygous |
| AA change | p.Asp1742Gly |
| AA alteration type | Missense |
| Detection methods | PCR-Sanger |
| Known variant | Known |
| Reference ID | rs121918812 |
| MAF in 1000G | . |
| MAF in ExAC | . |
| MAF in genomAD | . |
| Exon/Intron | Exon26 |
| Protein Domain | DIVS5S6 loop |
| Inheritance | Inherited |
| Variant Classification | Uncertain significance |
| Clinical diagnosis | GEFS+ |
| Gender | Female |
| Ethnogenesis | South American |
| Family history | Father: FS+; Paternal aunts: FS+; Paternal grandmother: FS+; Paternal cousins: FS |
| Age of seizure onset | 5 months old |
| Short descriptions for Cases | Corrected c.5213A>G; Clinical information of IV:1 |
| References | Pineda-Trujillo, N., et al. "A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree." Seizure-European Journal of Epilepsy 14.2 (2005): 123-128. |
| co-existing variant(s) |