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166870266 A/T: c.3693T>A: p.Ser1231Arg: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166870266
Ref/Alt A/T
Genbank transcript ID NM_001165963.1
cds change c.3693T>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Ser1231Arg
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121918746
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 Japanese
Family history Negative
Age of seizure onset 7 months old
Short descriptions for Cases
References Fujiwara, Tateki, et al. "Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic–clonic seizures." Brain 126.3 (2003): 531-546.
co-existing variant(s)