166848296 TG/-: c.5488_5489delCA: p.Gln1830Valfs*6: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848296
Ref/Alt TG/-
Genbank transcript ID NM_001165963.1
cds change c.5488_5489delCA
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Gln1830Valfs*6
AA alteration type Truncation
Detection methods PCR-Sanger, MLPA, FISH
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 Dravet syndrome
Gender Female
Ethnogenesis Unknown
Family history Negative
Age of seizure onset Unknown
Short descriptions for Cases
References Gaily, Eija, et al. "Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings." Epilepsia 54.9 (2013): 1577-1585.
co-existing variant(s)