<<BACK

166848146 C/T: c.5639G>A: p.Gly1880Glu: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848146
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.5639G>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Gly1880Glu
AA alteration type Missense
Detection methods PCR-Sanger, MLPA
Known variant Known
Reference ID rs201905405
MAF in 1000G .
MAF in ExAC 7.42E-05
MAF in genomAD 7.34E-05
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Female
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 1 year old
Short descriptions for Cases
References Catarino, Claudia B., et al. "Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology." Brain 134.10 (2011): 2982-3010.
co-existing variant(s)