166848525 C/T: c.5260G>A: p.Gly1754Arg: Missense
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848525 |
Ref/Alt | C/T |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5260G>A |
cds alteration type | Non-synonymous |
Zygosis | Heterozygous |
AA change | p.Gly1754Arg |
AA alteration type | Missense |
Detection methods | PCR-Sanger, MLPA, DHPLC |
Known variant | Unknown |
Reference ID | . |
MAF in 1000G | . |
MAF in ExAC | . |
MAF in genomAD | 0 |
Exon/Intron | Exon26 |
Protein Domain | DIVS5S6 loop |
Inheritance | De novo |
Variant Classification | Uncertain significance |
Clinical diagnosis | Dravet syndrome |
Gender | Female |
Ethnogenesis | Unknown |
Family history | Unknown |
Age of seizure onset | 6 months old |
Short descriptions for Cases | |
References | Petrelli, Cristina, et al. "Early clinical features in Dravet syndrome patients with and without SCN1A mutations." Epilepsy research 99.1-2 (2012): 21-27. |
co-existing variant(s) |