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166848351 A/C: c.5434T>G: p.Trp1812Gly: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848351
Ref/Alt A/C
Genbank transcript ID NM_001165963.1
cds change c.5434T>G
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Trp1812Gly
AA alteration type Missense
Detection methods Unknown
Known variant Known
Reference ID rs121918751
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Likely pathogenic
Clinical diagnosis Dravet syndrome
Gender Unknown
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 4 months old
Short descriptions for Cases
References Skjei, Karen L., et al. "Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy." Journal of Neurosurgery: Pediatrics 16.6 (2015): 668-674.
co-existing variant(s)