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166870322 G/A: c.3637C>T: p.Arg1213*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166870322
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.3637C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg1213*
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Known
Reference ID rs794726710
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon18
Protein Domain DIIDIII linker
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Unknown
Family history Monozygotic twin: SMEI; Maternal uncle: Febrile convulsion
Age of seizure onset 11 months old
Short descriptions for Cases Monozygotic twin proband
References Fujiwara, Tateki, et al. "Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic–clonic seizures." Brain 126.3 (2003): 531-546.

Fujiwara, Tateki, et al. "Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy." Epilepsia 31.3 (1990): 281-286.
co-existing variant(s)