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166870267 C/G: c.3692G>C: p.Ser1231Thr: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166870267
Ref/Alt C/G
Genbank transcript ID NM_001165963.1
cds change c.3692G>C
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Ser1231Thr
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121918800
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon18
Protein Domain DIIIS1
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 1 year 1 month old
Short descriptions for Cases
References Kearney, Jennifer A., et al. "Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy." Pediatric neurology 34.2 (2006): 116-120.
co-existing variant(s)