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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
Known variant Known
Reference ID rs794726739
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Japanese
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Corrected c.5644C>T; p.Arg1882*
References Fukuma, Goryu, et al. "Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)." Epilepsia 45.2 (2004): 140-148.
co-existing variant(s)