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166850785 G/A: c.4723C>T: p.Arg1575Cys: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166850785
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.4723C>T
cds alteration type Non-synonymous
Zygosis Compound Heterozygous
AA change p.Arg1575Cys
AA alteration type Missense
Detection methods PCR-Sanger, MLPA
Known variant Known
Reference ID rs121918807
MAF in 1000G 0.000399361
MAF in ExAC 7.47E-05
MAF in genomAD 7.75E-05
Exon/Intron Exon25
Protein Domain DIVS2
Inheritance Inherited
Variant Classification Likely benign
Clinical diagnosis SMEI
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Compound variant (2/2)
References Wang, Ji-wen, et al. "Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy." Epilepsy research 102.3 (2012): 195-200.
co-existing variant(s) 166929881 T/C: c.251A>G: p.Tyr84Cys: Missense