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166848563 C/G: c.5222G>C: p.Cys1741Ser: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848563
Ref/Alt C/G
Genbank transcript ID NM_001165963.1
cds change c.5222G>C
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Cys1741Ser
AA alteration type Missense
Detection methods PCR-Sanger, WES
Known variant Unknown
Reference ID .
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 Lennox-Gastaut Syndrome, Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 months old
Short descriptions for Cases
References Allen, Andrew S., et al. "De novo mutations in epileptic encephalopathies." Nature 501.7466 (2013): 217.
co-existing variant(s)