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166848539 C/T: c.5246G>A: p.Gly1749Glu: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848539
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.5246G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Gly1749Glu
AA alteration type Missense
Detection methods PCR-Sanger, DHPLC
Known variant Known
Reference ID rs121918798
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS5S6 loop
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Unknown
Ethnogenesis Unknown
Family history Maternal grandmother: epilepsy
Age of seizure onset 8 months old
Short descriptions for Cases
References Claes, Lieve, et al. "De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy." Human mutation 21.6 (2003): 615-621.
co-existing variant(s)