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, DHPLC, MLPA
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 FS+
Gender Male
Ethnogenesis Unknown
Family history Present
Age of seizure onset 8 months old
Short descriptions for Cases
References Marini, Carla, et al. "Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities." Epilepsia 48.9 (2007): 1678-1685.
co-existing variant(s)