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166848544 G/GTT: c.5240_5241insAA: p.Asn1747Lysfs*33: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848544
Ref/Alt G/GTT
Genbank transcript ID NM_001165963.1
cds change c.5240_5241insAA
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Asn1747Lysfs*33
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 DIVS5S6 loop
Inheritance Mosaic
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Female
Ethnogenesis Caucasian
Family history Mother: Febrile seizure; Brother: SMEI
Age of seizure onset 10 months old
Short descriptions for Cases Corrected p.Asn1747fs*1779
References Gennaro, Elena, et al. "Familial severe myoclonic epilepsy of infancy: truncation of Nav1. 1 and genetic heterogeneity." Epileptic disorders: international epilepsy journal with videotape 5.1 (2003): 21-25. Gennaro, Elena, et al. "Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy." Biochemical and biophysical research communications 341.2 (2006): 489-493.
co-existing variant(s)