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166848519 A/C: c.5266T>G: p.Cys1756Gly: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848519
Ref/Alt A/C
Genbank transcript ID NM_001165963.1
cds change c.5266T>G
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Cys1756Gly
AA alteration type Missense
Detection methods PCR-Sanger, DHPLC
Known variant Known
Reference ID rs121918809
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS5S6 loop
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis SMEB
Gender Male
Ethnogenesis Indonesian
Family history Maternal cousin: Febrile seizure
Age of seizure onset 3 months old
Short descriptions for Cases
References Herini, Elisabeth Siti, et al. "Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients." Epilepsy research 90.1-2 (2010): 132-139.
co-existing variant(s)