c.1637-1640?del: p.Lys547Argfs*11: Truncation

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.1637-1640?del
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Lys547Argfs*11
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant
Reference ID
MAF in 1000G
MAF in genomAD
Exon/Intron Exon10
Protein Domain DIDII linker
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Borderline severe myoclonic epilepsy in infancy, Paroxysmal movement disorders
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 7 months old
Short descriptions for Cases Uncertain variant
References Ohtsuka, Yoko, et al. "Paroxysmal movement disorders in severe myoclonic epilepsy in infancy." Brain and Development 25.6 (2003): 401-405.
co-existing variant(s)