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166848555 T/C: c.5230A>G: p.Asn1744Asp: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848555
Ref/Alt T/C
Genbank transcript ID NM_001165963.1
cds change c.5230A>G
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Asn1744Asp
AA alteration type Missense
Detection methods PCR-Sanger, DHPLC
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS5S6 loop
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis GEFS+
Gender Male
Ethnogenesis Malaysian
Family history Unknown
Age of seizure onset 6 months old
Short descriptions for Cases Corrected c.5197A>G
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)