| Reference genomes |
Human GRCh37/hg19 |
| Genomic position |
166848140 |
| Ref/Alt |
ATCTCT/TACTCTAG |
| Genbank transcript ID |
NM_001165963.1 |
| cds change |
c.5640_5645delinsCTAGAGTA |
| cds alteration type |
Nonsense |
| Zygosis |
Heterozygous |
| AA change |
p.Glu1881* |
| AA alteration type |
Truncation |
| Detection methods |
PCR-Sanger |
| Known variant |
Unknown |
| Reference ID |
. |
| MAF in 1000G |
. |
| MAF in ExAC |
. |
| MAF in genomAD |
. |
| Exon/Intron |
Exon26 |
| Protein Domain |
C-terminus |
| Inheritance |
Unknown |
| Variant Classification |
Uncertain significance |
| Clinical diagnosis |
Severe myoclonic epilepsy in infancy |
| Gender |
Female |
| Ethnogenesis |
Unknown |
| Family history |
Unknown |
| Age of seizure onset |
6 months old |
| Short descriptions for Cases |
Corrected 5610-5615del(AGAGAT)ins(CTAGAGTA); G1870fsX1871 (AF225985.1) |
| References |
Ohmori, Iori, et al. "Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy." Biochemical and biophysical research communications 295.1 (2002): 17-23. |
| co-existing variant(s) |
|
