c.1170+2C>T?: Splicing

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.1170+2C>T?
cds alteration type Intronic splicing donor
Zygosis Heterozygous
AA change -
AA alteration type Splicing
Detection methods Unknown
Known variant
Reference ID
MAF in 1000G
MAF in genomAD
Exon/Intron Intron8
Protein Domain DIS5S6 loop
Inheritance De novo
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
References Ceulemans, Berten PGM, Lieve RF Claes, and Lieven G. Lagae. "Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy." Pediatric neurology 30.4 (2004): 236-243.
co-existing variant(s)