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166848474 T/A: c.5311A>T: p.Ile1771Phe: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848474
Ref/Alt T/A
Genbank transcript ID NM_001165963.1
cds change c.5311A>T
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Ile1771Phe
AA alteration type Missense
Detection methods PCR-Sanger, MLPA
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS6
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis SMEB
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
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)