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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 PCR-Sanger
Known variant Known
Reference ID rs398123585
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon11
Protein Domain DIDII linker
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 7 months old
Short descriptions for Cases
References Kearney, Jennifer A., et al. "Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy." Pediatric neurology 34.2 (2006): 116-120.
co-existing variant(s)