166848487 AAA/-: c.5296_5298delTTT: p.Phe1766del: Non-frame shift indels

Reference genomes Human GRCh37/hg19
Genomic position 166848487
Ref/Alt AAA/-
Genbank transcript ID NM_001165963.1
cds change c.5296_5298delTTT
cds alteration type Non-frame shift indels
Zygosis Heterozygous
AA change p.Phe1766del
AA alteration type Non-frame shift indels
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 SMEB
Gender Female
Ethnogenesis Japanese
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Corrected c.5266_5268delTTT; p.Phe1756del
References Fukuma, Goryu, et al. "Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)." Epilepsia 45.2 (2004): 140-148.
co-existing variant(s)