166848042 C/A: c.5743G>T: p.Glu1915*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848042
Ref/Alt C/A
Genbank transcript ID NM_001165963.1
cds change c.5743G>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Glu1915*
AA alteration type Truncation
Detection methods Unknown
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome, incomplete
Gender Female
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 6 months old
Short descriptions for Cases
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)