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166848111 G/A: c.5674C>T: p.Arg1892*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848111
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5674C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg1892*
AA alteration type Truncation
Detection methods PCR-Sanger, DHPLC
Known variant Known
Reference ID rs794726739
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, Borderland lacking more than 1 feature of SMEI
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 3 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)