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166848279 C/CC: c.5506dupG: p.Glu1836Glyfs*25: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848279
Ref/Alt C/CC
Genbank transcript ID NM_001165963.1
cds change c.5506dupG
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Glu1836Glyfs*25
AA alteration type Truncation
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 Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 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)