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166848246 GTTT/-: c.5536_5539delAAAC: p.Lys1846Serfs*11: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848246
Ref/Alt GTTT/-
Genbank transcript ID NM_001165963.1
cds change c.5536_5539delAAAC
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Lys1846Serfs*11
AA alteration type Truncation
Detection methods PCR-Sanger, DHPLC
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, Borderland without generalised spike wave
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 4 months old
Short descriptions for Cases
References Harkin, Louise A., et al. "The spectrum of SCN1A-related infantile epileptic encephalopathies." Brain 130.3 (2007): 843-852.
co-existing variant(s)