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166848140 ATCTCT/TACTCTAG: c.5640_5645delinsCTAGAGTA: p.Glu1881*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848140
Ref/Alt ATCTCT/TACTCTAG
Genbank transcript ID NM_001165963.1
cds change c.5640_5645delinsCTAGAGTA
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Glu1881*
AA alteration type Truncation
Detection methods PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Severe myoclonic epilepsy in infancy
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 months old
Short descriptions for Cases Corrected 5610-5615del(AGAGAT)ins(CTAGAGTA); G1870fsX1871 (AF225985.1)
References Ohmori, Iori, et al. "Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy." Biochemical and biophysical research communications 295.1 (2002): 17-23.
co-existing variant(s)