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166848144 C/A: c.5641G>T: p.Glu1881*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848144
Ref/Alt C/A
Genbank transcript ID NM_001165963.1
cds change c.5641G>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Glu1881*
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 8 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)