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 | De novo |
Variant Classification | Pathogenic |
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) |