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166848204 G/A: c.5581C>T: p.Arg1861Trp: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848204
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5581C>T
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Arg1861Trp
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 Unknown
Variant Classification Uncertain significance
Clinical diagnosis Intractable Epilepsy
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)