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c.384-?_473+?del: p.Leu129_Glu158del: Micro-deletions

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.384-?_473+?del
cds alteration type Micro-deletions
Zygosis Compound Heterozygous
AA change p.Leu129_Glu158del
AA alteration type Micro-deletions
Detection methods MLPA
Known variant Unknown
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon3
Protein Domain DIS1
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Unknown
Ethnogenesis Unknown
Family history Positive
Age of seizure onset 4 months old
Short descriptions for Cases Compound variant (1/2)
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) c.3430-?_6030+?del: Micro-deletions