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166848440 A/C: c.5345T>G: p.Ile1782Ser: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848440
Ref/Alt A/C
Genbank transcript ID NM_001165963.1
cds change c.5345T>G
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Ile1782Ser
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS6
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
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)