166848500 C/T: c.5285G>A: p.Gly1762Glu: Missense
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848500 |
Ref/Alt | C/T |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5285G>A |
cds alteration type | Non-synonymous |
Zygosis | Heterozygous |
AA change | p.Gly1762Glu |
AA alteration type | Missense |
Detection methods | PCR-Sanger |
Known variant | Known |
Reference ID | rs121917950 |
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 | Unknown |
Age of seizure onset | Unknown |
Short descriptions for Cases | |
References | Margherita Mancardi, Maria, et al. "Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations." Epilepsia 47.10 (2006): 1629-1635. |
co-existing variant(s) |