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166848109 TCGC: c.5673_5676dupGCGA: p.Phe1893Alafs*53: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848109
Ref/Alt TCGC
Genbank transcript ID NM_001165963.1
cds change c.5673_5676dupGCGA
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Phe1893Alafs*53
AA alteration type Truncation
Detection methods Unknown
Known variant
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 Negative
Age of seizure onset 6 months old
Short descriptions for Cases
References Villeneuve, Nathalie, et al. "Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome." Epilepsy & behavior 31 (2014): 143-148.
co-existing variant(s)