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166848017 T/C: c.5768A>G: p.Gln1923Arg: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848017
Ref/Alt T/C
Genbank transcript ID NM_001165963.1
cds change c.5768A>G
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Gln1923Arg
AA alteration type Missense
Detection methods PCR-Sanger
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 Mild classical febrile epilepsy
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Jiao, Jiao, et al. "Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons." Human molecular genetics 22.21 (2013): 4241-4252.
co-existing variant(s)