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c.2944G>C?: p.Val982Leu: Missense

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.2944G>C?
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Val982Leu
AA alteration type Missense
Detection methods PCR-Sanger
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon15
Protein Domain DIIS6
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Acute encephalopathy with biphasic seizures and late reduced diffusion
Gender Female
Ethnogenesis Japanese
Family history Negative
Age of seizure onset 3 months old
Short descriptions for Cases Uncertain variant; possibly c.2944G>T
References Saitoh, Makiko, et al. "Mutations of the SCN1A gene in acute encephalopathy." Epilepsia 53.3 (2012): 558-564.
co-existing variant(s)