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166848363 A/T: c.5422T>A: p.Phe1808Ile: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848363
Ref/Alt A/T
Genbank transcript ID NM_001165963.1
cds change c.5422T>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Phe1808Ile
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance De novo
Variant Classification Uncertain significance
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)