<<BACK

166848437 G/A: c.5348C>T: p.Ala1783Val: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848437
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5348C>T
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Ala1783Val
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121917921
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 Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 3 months old
Short descriptions for Cases
References Depienne, Christel, et al. "Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients." Journal of medical genetics (2008).
co-existing variant(s)