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166898844 G/A: c.2134C>T: p.Arg712*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166898844
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.2134C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg712*
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Known
Reference ID rs794726730
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon12
Protein Domain DIDII linker
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Female
Ethnogenesis Japanese
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Corrected c.2101C>T; p.Arg701*(NM_006920.1)
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)