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166848185 A/-: c.5600delT: p.Ile1867Thrfs*10: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848185
Ref/Alt A/-
Genbank transcript ID NM_001165963.1
cds change c.5600delT
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Ile1867Thrfs*10
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 C-terminus
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Unknown
Gender Male
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)