166870351 T/-: c.3608delA: p.Gln1203Hisfs*5: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166870351
Ref/Alt T/-
Genbank transcript ID NM_001165963.1
cds change c.3608delA
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Gln1203Hisfs*5
AA alteration type Truncation
Detection methods Unknown
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon18
Protein Domain DIIDIII linker
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 months old
Short descriptions for Cases
References McArdle, Erin J., Jennifer D. Kunic, and Alfred L. George Jr. "Novel SCN1A frameshift mutation with absence of truncated Nav1. 1 protein in severe myoclonic epilepsy of infancy." American journal of medical genetics. Part A 18 (2008): 2421.
co-existing variant(s)