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, DHPLC |
Known variant | Unknown |
Reference ID | . |
MAF in 1000G | . |
MAF in ExAC | . |
MAF in genomAD | 0 |
Exon/Intron | Exon26 |
Protein Domain | DIVS5S6 loop |
Inheritance | Unknown |
Variant Classification | Uncertain significance |
Clinical diagnosis | GEFS+ |
Gender | Male |
Ethnogenesis | Malaysian |
Family history | Unknown |
Age of seizure onset | 1 year old |
Short descriptions for Cases | Corrected c.5227G>A; G1743K |
References | Tan, Emmilia Husni, et al. "De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+)." Epilepsy research 102.3 (2012): 210-215. |
co-existing variant(s) |