166848605 T/C: c.5180A>G: p.Asp1727Gly: Missense
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848605 |
Ref/Alt | T/C |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5180A>G |
cds alteration type | Non-synonymous |
Zygosis | Heterozygous |
AA change | p.Asp1727Gly |
AA alteration type | Missense |
Detection methods | PCR-Sanger, MLPA |
Known variant | Unknown |
Reference ID | . |
MAF in 1000G | . |
MAF in ExAC | . |
MAF in genomAD | . |
Exon/Intron | Exon26 |
Protein Domain | DIVS5S6 loop |
Inheritance | De novo |
Variant Classification | Uncertain significance |
Clinical diagnosis | SMEI |
Gender | Female |
Ethnogenesis | Unknown |
Family history | Unknown |
Age of seizure onset | Unknown |
Short descriptions for Cases | |
References | Wang, Ji-wen, et al. "Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy." Epilepsy research 102.3 (2012): 195-200. |
co-existing variant(s) |