166898859 G/GTT: c.2118_2119insAA: p.Pro707Asnfs*9: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166898859
Ref/Alt G/GTT
Genbank transcript ID NM_001165963.1
cds change c.2118_2119insAA
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Pro707Asnfs*9
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon12
Protein Domain DIDII linker
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Female
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 5 months old
Short descriptions for Cases
References Kearney, Jennifer A., et al. "Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy." Pediatric neurology 34.2 (2006): 116-120.
co-existing variant(s)