166848525 C/T: c.5260G>A: p.Gly1754Arg: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848525
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.5260G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Gly1754Arg
AA alteration type Missense
Detection methods PCR-Sanger, MLPA, DHPLC
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD 0
Exon/Intron Exon26
Protein Domain DIVS5S6 loop
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 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)