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166848446 A/G: c.5339T>C: p.Met1780Thr: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848446
Ref/Alt A/G
Genbank transcript ID NM_001165963.1
cds change c.5339T>C
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Met1780Thr
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121917952
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS6
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Margherita Mancardi, Maria, et al. "Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations." Epilepsia 47.10 (2006): 1629-1635.
co-existing variant(s)