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c.1-?_6030+?del: Whole gene deletion

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.1-?_6030+?del
cds alteration type Whole gene deletion
Zygosis Heterozygous
AA change -
AA alteration type Whole gene deletion
Detection methods Unknown
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon1
Protein Domain -
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome, Alleged vaccine encephalopathy
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 2 months old
Short descriptions for Cases
References Reyes, Ila S., et al. "Alleged cases of vaccine encephalopathy rediagnosed years later as Dravet syndrome." Pediatrics 128.3 (2011): e699-e702.
co-existing variant(s)