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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, MLPA
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 Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Negative
Age of seizure onset Unknown
Short descriptions for Cases
References Catarino, Claudia B., et al. "Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology." Brain 134.10 (2011): 2982-3010.
co-existing variant(s)