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166848560 T/C: c.5225A>G: p.Asp1742Gly: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848560
Ref/Alt T/C
Genbank transcript ID NM_001165963.1
cds change c.5225A>G
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Asp1742Gly
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121918812
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS5S6 loop
Inheritance Inherited
Variant Classification Uncertain significance
Clinical diagnosis GEFS+
Gender Female
Ethnogenesis South American
Family history Father: FS+; Paternal aunts: FS+; Paternal grandmother: FS+; Paternal cousins: FS
Age of seizure onset 5 months old
Short descriptions for Cases Corrected c.5213A>G; Clinical information of IV:1
References Pineda-Trujillo, N., et al. "A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree." Seizure-European Journal of Epilepsy 14.2 (2005): 123-128.
co-existing variant(s)