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c.3696del22insG?: p.Leu1235fs*1243?: Truncation

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.3696del22insG?
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Leu1235fs*1243?
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon18
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 Uncertain variant; Corrected L1235fsX1243
References Margherita Mancardi, Maria, et al. "Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations." Epilepsia 47.10 (2006): 1629-1635.
co-existing variant(s)