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166848417 TG/-: c.5367_5368delCA: p.Phe1789Leufs*5: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848417
Ref/Alt TG/-
Genbank transcript ID NM_001165963.1
cds change c.5367_5368delCA
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Phe1789Leufs*5
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 Unknown
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 2 months old
Short descriptions for Cases
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)