<<BACK

166848499 T/G: c.5286A>C: =: VUS

Reference genomes Human GRCh37/hg19
Genomic position 166848499
Ref/Alt T/G
Genbank transcript ID NM_001165963.1
cds change c.5286A>C
cds alteration type Synonymous
Zygosis Heterozygous
AA change =
AA alteration type VUS
Detection methods PCR-Sanger, DHPLC
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS6
Inheritance Inherited
Variant Classification Uncertain significance
Clinical diagnosis FS+, Focal seizures
Gender Male
Ethnogenesis Indonesian
Family history Father: Febrile seizure
Age of seizure onset 1 year 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)