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166848370 AA/-: c.5414_5415delTT: p.Phe1805*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848370
Ref/Alt AA/-
Genbank transcript ID NM_001165963.1
cds change c.5414_5415delTT
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Phe1805*
AA alteration type Truncation
Detection methods PCR-Sanger, DHPLC
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
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
References Nabbout, R., et al. "Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy." Neurology 60.12 (2003): 1961-1967.
co-existing variant(s)