166848206 T/GGAGA: c.5579delinsTCTCC: p.Asp1860Valfs*8: Truncation
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848206 |
Ref/Alt | T/GGAGA |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5579delinsTCTCC |
cds alteration type | Frame shift indels |
Zygosis | Heterozygous |
AA change | p.Asp1860Valfs*8 |
AA alteration type | Truncation |
Detection methods | PCR-Sanger, MLPA, DHPLC |
Known variant | Unknown |
Reference ID | . |
MAF in 1000G | . |
MAF in ExAC | . |
MAF in genomAD | . |
Exon/Intron | Exon26 |
Protein Domain | C-terminus |
Inheritance | De novo |
Variant Classification | Uncertain significance |
Clinical diagnosis | SMEB |
Gender | Female |
Ethnogenesis | Italian |
Family history | Negative |
Age of seizure onset | 7 months old |
Short descriptions for Cases | |
References | Nicita, Francesco, et al. "Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy)." Journal of child neurology 25.11 (2010): 1369-1376. |
co-existing variant(s) |