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166848443 T/C: c.5342A>G: p.Tyr1781Cys: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848443
Ref/Alt T/C
Genbank transcript ID NM_001165963.1
cds change c.5342A>G
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Tyr1781Cys
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121918779
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS6
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Japanese
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Corrected c.5312A>G; p.Tyr1771Cys
References Fukuma, Goryu, et al. "Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)." Epilepsia 45.2 (2004): 140-148.
co-existing variant(s)