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166900385 G/A: c.1837C>T: p.Arg613*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166900385
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.1837C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg613*
AA alteration type Truncation
Detection methods PCR-Sanger, MLPA, FISH
Known variant Known
Reference ID rs398123585
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon11
Protein Domain DIDII linker
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Negative
Age of seizure onset Unknown
Short descriptions for Cases
References Gaily, Eija, et al. "Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings." Epilepsia 54.9 (2013): 1577-1585.
co-existing variant(s)