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c.4601-4605del/dup?: p.Phe1535Leufs*4/p.Phe1535Leufs*2?: Truncation

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.4601-4605del/dup?
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Phe1535Leufs*4/p.Phe1535Leufs*2?
AA alteration type Truncation
Detection methods PCR-Sanger, MLPA
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon25
Protein Domain DIIIDIV linker
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 4 months old
Short descriptions for Cases Uncertain variant
References Verbeek, Nienke E., et al. "Prevalence of SCN1A-related Dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study." PLoS One 8.6 (2013): e65758.
co-existing variant(s)