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c.2416-?_3429+?del: p.Val806_Glu1143del: Micro-deletions

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.2416-?_3429+?del
cds alteration type
Zygosis Heterozygous
AA change p.Val806_Glu1143del
AA alteration type Micro-deletions
Detection methods MLPA
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon14
Protein Domain DIIS2
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Unknown
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 6 months old
Short descriptions for Cases
References Nakayama, Tojo, et al. "Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome." Human mutation 31.7 (2010): 820-829.
co-existing variant(s)