166848493 G/GA: c.5291_5292insT: p.Phe1765Leufs*30: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848493
Ref/Alt G/GA
Genbank transcript ID NM_001165963.1
cds change c.5291_5292insT
cds alteration type Frame shift indels
Zygosis Compound Heterozygous
AA change p.Phe1765Leufs*30
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS6
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Japanese
Family history Father: febrile convulsion
Age of seizure onset 6 months old
Short descriptions for Cases Compound variants (1/2)
References Fujiwara, Tateki, et al. "Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic–clonic seizures." Brain 126.3 (2003): 531-546.
co-existing variant(s) 166892788 C/T: c.3199G>A: p.Ala1067Thr: Missense