166848351 A/C: c.5434T>G: p.Trp1812Gly: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848351
Ref/Alt A/C
Genbank transcript ID NM_001165963.1
cds change c.5434T>G
cds alteration type Non-synonymous
Zygosis Compound Heterozygous
AA change p.Trp1812Gly
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121918751
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance De novo
Variant Classification Likely pathogenic
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Japanese
Family history Negative
Age of seizure onset 5 months old
Short descriptions for Cases Compound variants (1/2)
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) 166892788 C/T: c.3199G>A: p.Ala1067Thr: Missense