166848533 GAG/CC: c.5250_5252delinsGG: p.Ser1750Argfs*29: Truncation
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848533 |
Ref/Alt | GAG/CC |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5250_5252delinsGG |
cds alteration type | Frame shift indels |
Zygosis | Heterozygous |
AA change | p.Ser1750Argfs*29 |
AA alteration type | Truncation |
Detection methods | PCR-Sanger, MLPA, allele-specific PCR |
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 | Dravet syndrome |
Gender | Unknown |
Ethnogenesis | Chinese |
Family history | Unknown |
Age of seizure onset | Unknown |
Short descriptions for Cases | |
References | Sun, Huihui, et al. "Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome." Journal of human genetics 55.7 (2010): 421. |
co-existing variant(s) |