<<BACK

166848437 G/A: c.5348C>T: p.Ala1783Val: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848437
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5348C>T
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Ala1783Val
AA alteration type Missense
Detection methods PCR-Sanger, MLPA
Known variant Known
Reference ID rs121917921
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS6
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Wang, Ji-wen, et al. "Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy." Epilepsy research 102.3 (2012): 195-200.
co-existing variant(s)