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166898888 AAAGAACTTG/-: c.2081_2090del10: p.Ser695Thrfs*7: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166898888
Ref/Alt AAAGAACTTG/-
Genbank transcript ID NM_001165963.1
cds change c.2081_2090del10
cds alteration type Frame shift indels
Zygosis Compound Heterozygous
AA change p.Ser695Thrfs*7
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon12
Protein Domain DIDII linker
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 months old
Short descriptions for Cases Compound variant (2/2)
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) 166898900 C/T: c.2078G>A: p.Arg693Lys: Missense