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

Reference genomes Human GRCh37/hg19
Genomic position 166870253
Ref/Alt C/A
Genbank transcript ID NM_001165963.1
cds change c.3705+1G>T
cds alteration type Intronic splicing donor
Zygosis Heterozygous
AA change -
AA alteration type Splicing
Detection methods PCR-Sanger, DHPLC
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 SMEI
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Corrected L1235fsX1243
References Nabbout, R., et al. "Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy." Neurology 60.12 (2003): 1961-1967.
co-existing variant(s)