166848043 TT/-: c.5741_5742delAA: p.Gln1914Argfs*30: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848043
Ref/Alt TT/-
Genbank transcript ID NM_001165963.1
cds change c.5741_5742delAA
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Gln1914Argfs*30
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 Intractable Childhood Epilepsy with Generalised Tonic Clonic seizures
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 7 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)