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166898883 C/T: c.2095G>A: p.Val699Ile: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166898883
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.2095G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Val699Ile
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD 4.07E-06
Exon/Intron Exon12
Protein Domain DIDII linker
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Familial juvenile absence epilepsy with FS
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Variant did not cosegregate with the disease
References Escayg, Andrew, et al. "A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus?and prevalence of variants in patients with epilepsy." The American Journal of Human Genetics 68.4 (2001): 866-873.
co-existing variant(s)