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

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.1-?_6030+?del
cds alteration type
Zygosis Heterozygous
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 De novo
Variant Classification Pathogenic
Clinical diagnosis SMEI, Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 1 month old
Short descriptions for Cases
References Davidsson, Josef, et al. "Deletion of the SCN gene cluster on 2q24. 4 is associated with severe epilepsy: an array-based genotype–phenotype correlation and a comprehensive review of previously published cases." Epilepsy research 81.1 (2008): 69-79.
co-existing variant(s)