<<BACK

166898886 G/A: c.2092C>T: p.His698Tyr: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166898886
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.2092C>T
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.His698Tyr
AA alteration type Missense
Detection methods Unknown
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon12
Protein Domain DIDII linker
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome, incomplete
Gender Female
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 10 months old
Short descriptions for Cases
References Villeneuve, Nathalie, et al. "Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome." Epilepsy & behavior 31 (2014): 143-148.
co-existing variant(s)