166848473 A/T: c.5312T>A: p.Ile1771Asn: Missense
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848473 |
Ref/Alt | A/T |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5312T>A |
cds alteration type | Non-synonymous |
Zygosis | Heterozygous |
AA change | p.Ile1771Asn |
AA alteration type | Missense |
Detection methods | PCR-Sanger |
Known variant | Unknown |
Reference ID | . |
MAF in 1000G | . |
MAF in ExAC | . |
MAF in genomAD | . |
Exon/Intron | Exon26 |
Protein Domain | DIVS6 |
Inheritance | Unknown |
Variant Classification | Uncertain significance |
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) |