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166900385 G/A: c.1837C>T: p.Arg613*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166900385
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.1837C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg613*
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Known
Reference ID rs398123585
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon11
Protein Domain DIDII linker
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis Unknown
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Depienne, Christel, et al. "Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients." Journal of medical genetics (2008).
co-existing variant(s)