166848017 T/C: c.5768A>G: p.Gln1923Arg: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848017
Ref/Alt T/C
Genbank transcript ID NM_001165963.1
cds change c.5768A>G
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Gln1923Arg
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Mosaic
Variant Classification Uncertain significance
Clinical diagnosis Partial epilepsy with antecedent febrile seizures
Gender Male
Ethnogenesis ethnic Han Chinese
Family history Paternal half sister: Partial epilepsy with antecedent febrile seizure; Father: FS
Age of seizure onset 6 months old
Short descriptions for Cases
References Shi, Y‐W., et al. "Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures." Genes, Brain and Behavior 11.2 (2012): 170-176.
co-existing variant(s)