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166848599 A/AA: c.5186dupT: p.Leu1729Phefs*9: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848599
Ref/Alt A/AA
Genbank transcript ID NM_001165963.1
cds change c.5186dupT
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Leu1729Phefs*9
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS5S6 loop
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 1 year old
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)