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c.3880-?_4002+?del: p.Ser1295_Val1335del: Micro-deletions

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.3880-?_4002+?del
cds alteration type
Zygosis Heterozygous
AA change p.Ser1295_Val1335del
AA alteration type Micro-deletions
Detection methods MLPA
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon20
Protein Domain DIIIS3
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis SMEI, Borderline
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
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)