166848476 A/T: c.5309T>A: p.Ile1770Asn: Missense
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848476 |
Ref/Alt | A/T |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5309T>A |
cds alteration type | Non-synonymous |
Zygosis | Heterozygous |
AA change | p.Ile1770Asn |
AA alteration type | Missense |
Detection methods | Unknown |
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 | Epilepsy |
Gender | Male |
Ethnogenesis | Unknown |
Family history | Paternal grandfather: seizures |
Age of seizure onset | 3 months old |
Short descriptions for Cases | |
References | Tang, Shan, et al. "Encephalopathy and SCN1A mutations." Epilepsia 52.4 (2011). |
co-existing variant(s) |