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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 Unknown
Known variant Known
Reference ID rs398123585
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon11
Protein Domain DIDII linker
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Rodda, Jill M., et al. "Progressive gait deterioration in adolescents with Dravet syndrome." Archives of neurology 69.7 (2012): 873-878.
co-existing variant(s)