166870349 A/G: c.3610T>C: p.Trp1204Arg: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166870349
Ref/Alt A/G
Genbank transcript ID NM_001165963.1
cds change c.3610T>C
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Trp1204Arg
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121917930
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon18
Protein Domain DIIDIII linker
Inheritance Inherited
Variant Classification Pathogenic
Clinical diagnosis GEFS+
Gender Female
Ethnogenesis German
Family history Brothers: Epilepsy, FS: Father: Epilepsy, FS: Paternal grandfather: FS
Age of seizure onset Unknown
Short descriptions for Cases
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)