166848129 G/A: c.5656C>T: p.Arg1886*: Truncation
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848129 |
Ref/Alt | G/A |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5656C>T |
cds alteration type | Nonsense |
Zygosis | Heterozygous |
AA change | p.Arg1886* |
AA alteration type | Truncation |
Detection methods | PCR-Sanger |
Known variant | Known |
Reference ID | rs779614747 |
MAF in 1000G | . |
MAF in ExAC | . |
MAF in genomAD | . |
Exon/Intron | Exon26 |
Protein Domain | C-terminus |
Inheritance | Unknown |
Variant Classification | Pathogenic |
Clinical diagnosis | Dravet syndrome |
Gender | Female |
Ethnogenesis | Unknown |
Family history | Unknown |
Age of seizure onset | 9 months old |
Short descriptions for Cases | |
References | Depienne, Christel, et al. "Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients." Journal of medical genetics (2008). |
co-existing variant(s) |