166848519 A/C: c.5266T>G: p.Cys1756Gly: Missense
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848519 |
Ref/Alt | A/C |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5266T>G |
cds alteration type | Non-synonymous |
Zygosis | Heterozygous |
AA change | p.Cys1756Gly |
AA alteration type | Missense |
Detection methods | PCR-Sanger, DHPLC |
Known variant | Known |
Reference ID | rs121918809 |
MAF in 1000G | . |
MAF in ExAC | . |
MAF in genomAD | . |
Exon/Intron | Exon26 |
Protein Domain | DIVS5S6 loop |
Inheritance | Unknown |
Variant Classification | Uncertain significance |
Clinical diagnosis | SMEB |
Gender | Male |
Ethnogenesis | Indonesian |
Family history | Maternal cousin: Febrile seizure |
Age of seizure onset | 3 months old |
Short descriptions for Cases | |
References | Herini, Elisabeth Siti, et al. "Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients." Epilepsy research 90.1-2 (2010): 132-139. |
co-existing variant(s) |