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) |
|