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166848111 G/A: c.5674C>T: p.Arg1892*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848111
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5674C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg1892*
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Known
Reference ID rs794726739
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis Hemiconvulsion-hemiplegia syndrome, SMEI
Gender Female
Ethnogenesis Unknown
Family history Brother: Febrile convulsions
Age of seizure onset 5 months old
Short descriptions for Cases
References Sakakibara, Takafumi, et al. "Hemiconvulsion–hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy." Epilepsia 50.9 (2009): 2158-2162.
co-existing variant(s)