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166848487 AAAA/-: c.5295_5298delTTTT: p.Phe1765Leufs*13: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848487
Ref/Alt AAAA/-
Genbank transcript ID NM_001165963.1
cds change c.5295_5298delTTTT
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Phe1765Leufs*13
AA alteration type Truncation
Detection methods PCR-Sanger, DHPLC, MLPA
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS6
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Unknown
Family history Present
Age of seizure onset 5 months old
Short descriptions for Cases
References Marini, Carla, et al. "Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities." Epilepsia 48.9 (2007): 1678-1685.
co-existing variant(s)