166850896 C/T: c.4612G>A: p.Val1538Ile: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166850896
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.4612G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Val1538Ile
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs780360360
MAF in 1000G .
MAF in ExAC 2.49E-05
MAF in genomAD 2.45E-05
Exon/Intron Exon25
Protein Domain DIIIDIV linker
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Late-onset Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 1 year 5 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)