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c.788-792?del/ins: p.Ile264fs*?: Truncation

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.788-792?del/ins
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Ile264fs*?
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon6
Protein Domain DIS5
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 5 months old
Short descriptions for Cases Uncertain variant
References Lee, Hsiu-Fen, et al. "Electroencephalographic features of patients with SCN1A-positive Dravet syndrome." Brain and Development 37.6 (2015): 599-611.
co-existing variant(s)