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166848438 C/T: c.5347G>A: p.Ala1783Thr: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848438
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.5347G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Ala1783Thr
AA alteration type Missense
Detection methods PCR-Sanger, MLPA, allele-specific PCR
Known variant Known
Reference ID rs121917980
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS6
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Unknown
Ethnogenesis Chinese
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Sun, Huihui, et al. "Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome." Journal of human genetics 55.7 (2010): 421.
co-existing variant(s)