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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 Whole gene deletion
Zygosis Heterozygous
AA change -
AA alteration type Whole gene deletion
Detection methods PCR-Sanger, FISH
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
Gender Male
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 8 months old
Short descriptions for Cases
References Madia, F., et al. "Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy." Neurology 67.7 (2006): 1230-1235.
co-existing variant(s)