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166848051 G/A: c.5734C>T: p.Arg1912*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848051
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5734C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg1912*
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Known
Reference ID rs77216276
MAF in 1000G 0.000199681
MAF in ExAC 8.25E-06
MAF in genomAD 4.07E-06
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Inherited
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 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)