166848490 A/T: c.5295T>A: p.Phe1765Leu: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848490
Ref/Alt A/T
Genbank transcript ID NM_001165963.1
cds change c.5295T>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Phe1765Leu
AA alteration type Missense
Detection methods PCR-Sanger, DHPLC
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS6
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Partial epilepsy with antecedent febrile seizures
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 10 months old
Short descriptions for Cases
References Liao, Wei‐Ping, et al. "Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Nav1. 1." Epilepsia 51.9 (2010): 1669-1678.
co-existing variant(s)