166848059 G/A: c.5726C>T: p.Thr1909Ile: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848059
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5726C>T
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Thr1909Ile
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121918793
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Likely pathogenic
Clinical diagnosis Severe myoclonic epilepsy in infancy
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 7 months old
Short descriptions for Cases Corrected C5696T; T1899I (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)