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166848338 TCAAACTTC/-: c.5439_5447del9: p.Glu1813_Phe1815del: Non-frame shift indels

Reference genomes Human GRCh37/hg19
Genomic position 166848338
Ref/Alt TCAAACTTC/-
Genbank transcript ID NM_001165963.1
cds change c.5439_5447del9
cds alteration type Non-frame shift indels
Zygosis Heterozygous
AA change p.Glu1813_Phe1815del
AA alteration type Non-frame shift indels
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 De novo
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 7 months old
Short descriptions for Cases
References Depienne, Christel, et al. "Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients." Journal of medical genetics (2008).
co-existing variant(s)