166848350 C/T: c.5435G>A: p.Trp1812*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848350
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.5435G>A
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Trp1812*
AA alteration type Truncation
Detection methods PCR-Sanger, MLPA, DHPLC
Known variant Known
Reference ID rs796053040
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 4 months old
Short descriptions for Cases
References Petrelli, Cristina, et al. "Early clinical features in Dravet syndrome patients with and without SCN1A mutations." Epilepsy research 99.1-2 (2012): 21-27.
co-existing variant(s)