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166872142 AA/-: c.3524_3525delTT: p.Leu1175Argfs*8: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166872142
Ref/Alt AA/-
Genbank transcript ID NM_001165963.1
cds change c.3524_3525delTT
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Leu1175Argfs*8
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon17
Protein Domain DIIDIII linker
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Female
Ethnogenesis Japanese
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Corrected c.3494_3495delTT; p.Leu1165fs*1172
References Fukuma, Goryu, et al. "Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)." Epilepsia 45.2 (2004): 140-148.
co-existing variant(s)