<<BACK

166870397 TT/-: c.3561_3562delAA: p.Arg1188Ilefs*28: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166870397
Ref/Alt TT/-
Genbank transcript ID NM_001165963.1
cds change c.3561_3562delAA
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Arg1188Ilefs*28
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 De novo
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 5 months old
Short descriptions for Cases Corrected p.Gln1187fs*1215
References Harkin, Louise A., et al. "The spectrum of SCN1A-related infantile epileptic encephalopathies." Brain 130.3 (2007): 843-852.
co-existing variant(s)