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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 1 year 1 month old
Short descriptions for Cases Corrected c.5746A>G; p.Arg1916Gly (NM_006920.4)
References Rusconi, Raffaella, et al. "A rescuable folding defective Nav1. 1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1. 1 related epilepsies?." Human mutation 30.7 (2009).
co-existing variant(s)