166870321 C/T: c.3638G>A: p.Arg1213Gln: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166870321
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.3638G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Arg1213Gln
AA alteration type Missense
Detection methods PCR-Sanger, MLPA
Known variant Known
Reference ID rs566081370
MAF in 1000G 0.000199681
MAF in ExAC 4.13E-05
MAF in genomAD 2.04E-05
Exon/Intron Exon18
Protein Domain DIIDIII linker
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Intractable Epilepsy
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Wang, Ji-wen, et al. "Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy." Epilepsy research 102.3 (2012): 195-200.
co-existing variant(s)