166848158 AGAACCCG/-: c.5620_5627delCGGGTTCT: p.Val1875Argfs*67: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848158
Genbank transcript ID NM_001165963.1
cds change c.5620_5627delCGGGTTCT
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Val1875Argfs*67
AA alteration type Truncation
Detection methods PCR-Sanger, DHPLC, MLPA
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Unknown
Family history Present
Age of seizure onset 4 months old
Short descriptions for Cases Corrected R1874delX1941
References Marini, Carla, et al. "Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities." Epilepsia 48.9 (2007): 1678-1685.
co-existing variant(s)