166848189 C/A: c.5596G>T: p.Asp1866Tyr: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848189
Ref/Alt C/A
Genbank transcript ID NM_001165963.1
cds change c.5596G>T
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Asp1866Tyr
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121918815
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Inherited
Variant Classification Uncertain significance
Clinical diagnosis GEFS+
Gender Female
Ethnogenesis Italian
Family history Mother: GEFS+; Maternal grandfather: GEFS+; Sister: GEFS+
Age of seizure onset 8 months old
Short descriptions for Cases Clinical information of III-1
References Spampanato, J., et al. "A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for β subunit interaction." Journal of Neuroscience 24.44 (2004): 10022-10034.
co-existing variant(s)