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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 PCR-Sanger, DHPLC
Known variant Known
Reference ID rs121917975
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon25
Protein Domain DIVS1
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 8 months old
Short descriptions for Cases
References Harkin, Louise A., et al. "The spectrum of SCN1A-related infantile epileptic encephalopathies." Brain 130.3 (2007): 843-852.
co-existing variant(s)