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c.2785-2786del?: p.Leu929Serfs*6/p.Leu929Profs*6?: Truncation

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.2785-2786del?
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Leu929Serfs*6/p.Leu929Profs*6?
AA alteration type Truncation
Detection methods MLPA
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon15
Protein Domain DIIS5S6 loop
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome, Acute encephalopathy
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 3 months old
Short descriptions for Cases Uncertain variant; L929delfsX934
References Okumura, Akihisa, et al. "Acute encephalopathy in children with Dravet syndrome." Epilepsia 53.1 (2012): 79-86.
co-existing variant(s)