166848402 C/T: c.5383G>A: p.Glu1795Lys: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848402
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.5383G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Glu1795Lys
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121918813
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Inherited
Variant Classification Uncertain significance
Clinical diagnosis GEFS+
Gender Female
Ethnogenesis Chinese
Family history Father: GEFS+; Paternal uncle: GEFS+; Paternal grandfather: GEFS+
Age of seizure onset 9 months old
Short descriptions for Cases
References Li, Nan, et al. "Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus." Neuroscience letters 480.3 (2010): 211-214.
co-existing variant(s)