166848003 G/C: c.5782C>G: p.Arg1928Gly: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848003
Ref/Alt G/C
Genbank transcript ID NM_001165963.1
cds change c.5782C>G
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Arg1928Gly
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121917956
MAF in 1000G 0.00179712
MAF in ExAC 0.0014
MAF in genomAD 0.0013
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Inherited
Variant Classification Likely benign
Clinical diagnosis Sporadic hemiplegic migraine
Gender Male
Ethnogenesis Unknown
Family history Sisters: migraine with or without aura; Mother: migraine with aura; Paternal aunts: migraine with or without aura
Age of seizure onset 38 years old
Short descriptions for Cases
References De Vries, B., et al. "Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine." Neurology 69.23 (2007): 2170-2176.
co-existing variant(s)