166848533 GAG/CC: c.5250_5252delinsGG: p.Ser1750Argfs*29: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848533
Ref/Alt GAG/CC
Genbank transcript ID NM_001165963.1
cds change c.5250_5252delinsGG
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Ser1750Argfs*29
AA alteration type Truncation
Detection methods PCR-Sanger, MLPA, allele-specific PCR
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS5S6 loop
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Unknown
Ethnogenesis Chinese
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Sun, Huihui, et al. "Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome." Journal of human genetics 55.7 (2010): 421.
co-existing variant(s)