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166900388 G/A: c.1834C>T: p.Arg612*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166900388
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.1834C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg612*
AA alteration type Truncation
Detection methods PCR-Sanger, MLPA, allele-specific PCR
Known variant Known
Reference ID rs794726778
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon11
Protein Domain DIDII linker
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Unknown
Ethnogenesis Chinese
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Sun, Huihui, et al. "Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome." Journal of human genetics 55.7 (2010): 421.
co-existing variant(s)