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166850751 C/T: c.4757G>A: p.Gly1586Glu: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166850751
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.4757G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Gly1586Glu
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121918742
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon25
Protein Domain DIVS2
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 4 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)