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166040826 c.1-?_6030+?del: Whole gene deletion

Reference genomes Human GRCh37/hg19
Genomic position 166040826
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.1-?_6030+?del
cds alteration type Whole gene deletion
Zygosis Unknown
AA change -
AA alteration type Whole gene deletion
Detection methods aCGH
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon1
Protein Domain -
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Olson, Heather, et al. "Copy number variation plays an important role in clinical epilepsy." Annals of neurology 75.6 (2014): 943-958.
co-existing variant(s)