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166848216 C/A: c.5569G>T: p.Val1857Leu: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848216
Ref/Alt C/A
Genbank transcript ID NM_001165963.1
cds change c.5569G>T
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Val1857Leu
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121918814
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 Male
Ethnogenesis Unknown
Family history Father: FS; Paternal aunt: FS; Paternal cousin: FS
Age of seizure onset 1 year 10 months old
Short descriptions for Cases
References Nagao, Yoshiro, et al. "A family of generalized epilepsy with febrile seizures plus type 2—a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures." Epilepsy research 63.2-3 (2005): 151-156.
co-existing variant(s)