166848006 T/C: c.5779A>G: p.Arg1927Gly: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848006
Ref/Alt T/C
Genbank transcript ID NM_001165963.1
cds change c.5779A>G
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Arg1927Gly
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 Inherited
Variant Classification Uncertain significance
Clinical diagnosis GEFS+
Gender Male
Ethnogenesis Italian
Family history Father: GEFS+
Age of seizure onset 2 years old
Short descriptions for Cases Corrected p.Arg1916Gly; refference: Human Mutation Database #Hm0635
References Combi, Romina, et al. "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy." Brain research bulletin 79.2 (2009): 89-96.
co-existing variant(s)