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c.5929A>C?: p.Met1977Leu: Missense

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.5929A>C?
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Met1977Leu
AA alteration type Missense
Detection methods PCR-Sanger
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis GEFS+, Nonspecific acute encephalopathy
Gender Male
Ethnogenesis Japanese
Family history Uncle: Febrile convulsion
Age of seizure onset 1 year 6 months old
Short descriptions for Cases Uncertain variant; possibly c.5929A>T
References Saitoh, Makiko, et al. "Mutations of the SCN1A gene in acute encephalopathy." Epilepsia 53.3 (2012): 558-564.
co-existing variant(s)