166848229 C/CA: c.5555_5556insT: p.Met1852Ilefs*9: Truncation
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848229 |
Ref/Alt | C/CA |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5555_5556insT |
cds alteration type | Frame shift indels |
Zygosis | Heterozygous |
AA change | p.Met1852Ilefs*9 |
AA alteration type | Truncation |
Detection methods | PCR-Sanger, MLPA |
Known variant | Unknown |
Reference ID | . |
MAF in 1000G | . |
MAF in ExAC | . |
MAF in genomAD | . |
Exon/Intron | Exon26 |
Protein Domain | C-terminus |
Inheritance | Unknown |
Variant Classification | Uncertain significance |
Clinical diagnosis | Intractable Epilepsy |
Gender | Male |
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) |