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166898887 GAAA/-: c.2088_2091delTTTC: p.Phe697Thrfs*7: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166898887
Ref/Alt GAAA/-
Genbank transcript ID NM_001165963.1
cds change c.2088_2091delTTTC
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Phe697Thrfs*7
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 Exon12
Protein Domain DIDII linker
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Unknown
Ethnogenesis Korean
Family history Unknown
Age of seizure onset 3 months old
Short descriptions for Cases Corrected p.Ser696SerfsX8
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)