166850846 G/-: c.4662delC: p.Asn1554Lysfs*5: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166850846
Ref/Alt G/-
Genbank transcript ID NM_001165963.1
cds change c.4662delC
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Asn1554Lysfs*5
AA alteration type Truncation
Detection methods PCR-Sanger, MLPA
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon25
Protein Domain DIVS1
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Unknown
Ethnogenesis Korean
Family history Unknown
Age of seizure onset 2 months old
Short descriptions for Cases
References Lim, Byung Chan, et al. "SCN1A mutational analysis in Korean patients with Dravet syndrome." Seizure-European Journal of Epilepsy 20.10 (2011): 789-794.
co-existing variant(s)