166848206 T/GGAGA: c.5579delinsTCTCC: p.Asp1860Valfs*8: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848206
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 10 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)