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166850880 A/G: c.4628T>C: p.Phe1543Ser: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166850880
Ref/Alt A/G
Genbank transcript ID NM_001165963.1
cds change c.4628T>C
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Phe1543Ser
AA alteration type Missense
Detection methods PCR-Sanger, DHPLC
Known variant Known
Reference ID rs121917992
MAF in 1000G .
MAF in ExAC 1.66E-05
MAF in genomAD 2.04E-05
Exon/Intron Exon25
Protein Domain DIVS1
Inheritance Inherited
Variant Classification Uncertain significance
Clinical diagnosis Cryptogenic Focal Epilepsy, Severe Infantile MultiFocal Epilepsy
Gender Female
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 4 months old
Short descriptions for Cases
References Harkin, Louise A., et al. "The spectrum of SCN1A-related infantile epileptic encephalopathies." Brain 130.3 (2007): 843-852. Kim, Young Ok, et al. "Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline." Developmental Medicine & Child Neurology 56.1 (2014): 85-90.
co-existing variant(s)