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c.5643G>C?: p.Glu1881Asp: Missense

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.5643G>C?
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Glu1881Asp
AA alteration type Missense
Detection methods Unknown
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Uncertain variant; possibly c.5643G>T
References Rodda, Jill M., et al. "Progressive gait deterioration in adolescents with Dravet syndrome." Archives of neurology 69.7 (2012): 873-878.
co-existing variant(s)