166848128 C/T: c.5657G>A: p.Arg1886Gln: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848128
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.5657G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Arg1886Gln
AA alteration type Missense
Detection methods
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 Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 7 months old
Short descriptions for Cases
References Moehring, Jan, et al. "Variability of EEG‐fMRI findings in patients with SCN1A‐positive Dravet syndrome." Epilepsia 54.5 (2013): 918-926.
co-existing variant(s)