c.2618G>A?: p.Trp873*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.2618G>A?
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Trp873*
AA alteration type Truncation
Detection methods Unknown
Known variant
Reference ID
MAF in 1000G
MAF in genomAD
Exon/Intron Exon15
Protein Domain DIIS4S5 loop
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome, incomplete
Gender Female
Ethnogenesis Unknown
Family history Positive
Age of seizure onset 4 months old
Short descriptions for Cases Uncertain variant; possibly c.2619G>A; Corrected c.2686G>A
References Villeneuve, Nathalie, et al. "Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome." Epilepsy & behavior 31 (2014): 143-148.
co-existing variant(s)