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166898844 G/A: c.2134C>T: p.Arg712*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166898844
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.2134C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg712*
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Known
Reference ID rs794726730
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon12
Protein Domain DIDII linker
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 7 months old
Short descriptions for Cases
References Depienne, Christel, et al. "Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients." Journal of medical genetics (2008).
co-existing variant(s)