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166850875 T/C: c.4633A>G: p.Ile1545Val: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166850875
Ref/Alt T/C
Genbank transcript ID NM_001165963.1
cds change c.4633A>G
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Ile1545Val
AA alteration type Missense
Detection methods Unknown
Known variant Known
Reference ID rs121917975
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon25
Protein Domain DIVS1
Inheritance Unknown
Variant Classification Uncertain significance
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)