166848539 C/T: c.5246G>A: p.Gly1749Glu: Missense
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848539 |
Ref/Alt | C/T |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5246G>A |
cds alteration type | Non-synonymous |
Zygosis | Heterozygous |
AA change | p.Gly1749Glu |
AA alteration type | Missense |
Detection methods | PCR-Sanger, DHPLC |
Known variant | Known |
Reference ID | rs121918798 |
MAF in 1000G | . |
MAF in ExAC | . |
MAF in genomAD | . |
Exon/Intron | Exon26 |
Protein Domain | DIVS5S6 loop |
Inheritance | De novo |
Variant Classification | Uncertain significance |
Clinical diagnosis | SMEI |
Gender | Unknown |
Ethnogenesis | Unknown |
Family history | Maternal grandmother: epilepsy |
Age of seizure onset | 8 months old |
Short descriptions for Cases | |
References | Claes, Lieve, et al. "De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy." Human mutation 21.6 (2003): 615-621. |
co-existing variant(s) |