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c.2177-6delT?: Splicing

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.2177-6delT?
cds alteration type Intronic splicing acceptor
Zygosis Compound Heterozygous
AA change -
AA alteration type Splicing
Detection methods PCR-Sanger, MLPA
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Intron12
Protein Domain DIDII linker
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Intractable Epilepsy
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Uncertain variant; Compound variant (1/2)
References Wang, Ji-wen, et al. "Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy." Epilepsy research 102.3 (2012): 195-200.
co-existing variant(s) 166848111 G/A: c.5674C>T: p.Arg1892*: Truncation