<<BACK

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 MLPA
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 Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 4 months old
Short descriptions for Cases
References Depienne, Christel, et al. "Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients." Journal of medical genetics (2008).
co-existing variant(s)