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166848426 C/T: c.5359G>A: p.Glu1787Lys: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848426
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.5359G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Glu1787Lys
AA alteration type Missense
Detection methods PCR-Sanger, DHPLC, MLPA
Known variant Known
Reference ID rs121917916
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 Present
Age of seizure onset 10 months old
Short descriptions for Cases Corrected c.5359
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)