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166848411 C/T: c.5374G>A: p.Ala1792Thr: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848411
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.5374G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Ala1792Thr
AA alteration type Missense
Detection methods PCR-Sanger, MLPA
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance De novo
Variant Classification Uncertain significance
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)