c.3430-?_4002+?dup: Micro-duplication

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.3430-?_4002+?dup
cds alteration type Micro-duplication
Zygosis Heterozygous
AA change -
AA alteration type Micro-duplication
Detection methods PCR-Sanger, MLPA
Known variant
Reference ID
MAF in 1000G
MAF in genomAD
Exon/Intron Exon17
Protein Domain -
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 4 months old
Short descriptions for Cases
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)