Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID -
cds change -
cds alteration type
Zygosis Heterozygous
AA change -
AA alteration type VUS
Detection methods MLPA
Known variant
Reference ID
MAF in 1000G
MAF in genomAD
Exon/Intron Promoter
Protein Domain
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis SMEI, Borderline
Gender Unknown
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 5 months old
Short descriptions for Cases
References Nakayama, Tojo, et al. "Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome." Human mutation 31.7 (2010): 820-829.
co-existing variant(s)