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166848437 G/A: c.5348C>T: p.Ala1783Val: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848437
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5348C>T
cds alteration type Non-synonymous
Zygosis Compound Heterozygous
AA change p.Ala1783Val
AA alteration type Missense
Detection methods Gene panel, aCGH
Known variant Known
Reference ID rs121917921
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS6
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis SMEI, Sudden unexpected death in epilepsy,
Gender Male
Ethnogenesis Latin American
Family history Mother: Migraine headaches
Age of seizure onset 4 months old
Short descriptions for Cases Compound variant (1/2)
References Klassen, Tara L., et al. "High‐resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile." Epilepsia 55.2 (2014).
co-existing variant(s) 166892788 C/T: c.3199G>A: p.Ala1067Thr: Missense