166898844 G/A: c.2134C>T: p.Arg712*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166898844
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.2134C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg712*
AA alteration type Truncation
Detection methods
Known variant Known
Reference ID rs794726730
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon12
Protein Domain DIDII linker
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 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)