166848474 T/A: c.5311A>T: p.Ile1771Phe: Missense
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848474 |
Ref/Alt | T/A |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5311A>T |
cds alteration type | Non-synonymous |
Zygosis | Heterozygous |
AA change | p.Ile1771Phe |
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 | De novo |
Variant Classification | Uncertain significance |
Clinical diagnosis | Focal epilepsy |
Gender | Female |
Ethnogenesis | Unknown |
Family history | Unknown |
Age of seizure onset | 5 months old |
Short descriptions for Cases | |
References | Okumura, A., et al. "Focal epilepsy resulting from a de novo SCN1A mutation." Neuropediatrics 38.05 (2007): 253-256. |
co-existing variant(s) |