<<BACK

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, MLPA
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 Intractable Epilepsy
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Wang, Ji-wen, et al. "Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy." Epilepsy research 102.3 (2012): 195-200.
co-existing variant(s)