166870253 C/G: c.3705+1G>C: Splicing

Reference genomes Human GRCh37/hg19
Genomic position 166870253
Ref/Alt C/G
Genbank transcript ID NM_001165963.1
cds change c.3705+1G>C
cds alteration type Intronic splicing donor
Zygosis Heterozygous
AA change -
AA alteration type Splicing
Detection methods PCR-Sanger, MLPA, FISH
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Intron18
Protein Domain DIIIS1
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Negative
Age of seizure onset Unknown
Short descriptions for Cases
References Gaily, Eija, et al. "Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings." Epilepsia 54.9 (2013): 1577-1585.
co-existing variant(s)