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166848349 C/T: c.5436G>A: p.Trp1812*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848349
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.5436G>A
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Trp1812*
AA alteration type Truncation
Detection methods PCR-Sanger, DHPLC
Known variant Known
Reference ID rs863225037
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 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)