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166870315 A/ATA: c.3643_3644insTA: p.Glu1216Leufs*13: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166870315
Ref/Alt A/ATA
Genbank transcript ID NM_001165963.1
cds change c.3643_3644insTA
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Glu1216Leufs*13
AA alteration type Truncation
Detection methods PCR-Sanger, DHPLC
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon18
Protein Domain DIIDIII linker
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Corrected V1215X
References Nabbout, R., et al. "Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy." Neurology 60.12 (2003): 1961-1967.
co-existing variant(s)