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166848129 G/A: c.5656C>T: p.Arg1886*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848129
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5656C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg1886*
AA alteration type Truncation
Detection methods Unknown
Known variant Known
Reference ID rs779614747
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome, incomplete
Gender Female
Ethnogenesis Unknown
Family history Positive
Age of seizure onset 7 months old
Short descriptions for Cases
References Villeneuve, Nathalie, et al. "Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome." Epilepsy & behavior 31 (2014): 143-148.
co-existing variant(s)