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166898935 C/T: c.2044-1G>A: Splicing

Reference genomes Human GRCh37/hg19
Genomic position 166898935
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.2044-1G>A
cds alteration type Intronic splicing acceptor
Zygosis Heterozygous
AA change -
AA alteration type Splicing
Detection methods WES
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Intron11
Protein Domain DIDII linker
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 months old
Short descriptions for Cases
References Carvill, Gemma L., et al. "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Neurology 82.14 (2014): 1245-1253.
co-existing variant(s)