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 Unknown
AA change -
AA alteration type Whole gene deletion
Detection methods MLPA, aCGH
Known variant
Reference ID
MAF in 1000G
MAF in genomAD
Exon/Intron Exon1
Protein Domain -
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis Dravet syndrome
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 months old
Short descriptions for Cases
References Marini, Carla, et al. "SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis." Epilepsia 50.7 (2009): 1670-1678.
co-existing variant(s)