c.5535-5538del/ins?: p.Lys1846Asnfs*12/p.Lys1846Glnfs*15?: Truncation

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.5535-5538del/ins?
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Lys1846Asnfs*12/p.Lys1846Glnfs*15?
AA alteration type Truncation
Detection methods Unknown
Known variant
Reference ID
MAF in 1000G
MAF in genomAD
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Uncertain variant
References Rodda, Jill M., et al. "Progressive gait deterioration in adolescents with Dravet syndrome." Archives of neurology 69.7 (2012): 873-878.
co-existing variant(s)