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166848525 C/T: c.5260G>A: p.Gly1754Arg: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848525
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.5260G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Gly1754Arg
AA alteration type Missense
Detection methods PCR-Sanger, DHPLC
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD 0
Exon/Intron Exon26
Protein Domain DIVS5S6 loop
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis GEFS+
Gender Male
Ethnogenesis Malaysian
Family history Unknown
Age of seizure onset 1 year old
Short descriptions for Cases Corrected c.5227G>A; G1743K
References Tan, Emmilia Husni, et al. "De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+)." Epilepsy research 102.3 (2012): 210-215.
co-existing variant(s)