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c.3430-?_4002+?del: p.Lys1144_Arg1334del: Micro-deletions

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.3430-?_4002+?del
cds alteration type Micro-deletion
Zygosis Heterozygous
AA change p.Lys1144_Arg1334del
AA alteration type Micro-deletions
Detection methods Unknown
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon17
Protein Domain DIIDIII linker
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Unknown
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 3 months old
Short descriptions for Cases
References Skjei, Karen L., et al. "Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy." Journal of Neurosurgery: Pediatrics 16.6 (2015): 668-674.
co-existing variant(s)