166848051 G/A: c.5734C>T: p.Arg1912*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848051
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5734C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg1912*
AA alteration type Truncation
Detection methods
Known variant Known
Reference ID rs77216276
MAF in 1000G 0.000199681
MAF in ExAC 8.25E-06
MAF in genomAD 4.07E-06
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Turkish
Family history Negative
Age of seizure onset 4 months old
Short descriptions for Cases
References Özmen, Meral, et al. "Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients." Annals of Indian Academy of Neurology 14.3 (2011): 178.
co-existing variant(s)