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
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain DIVS5S6 loop
Inheritance Inherited
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Female
Ethnogenesis Unknown
Family history Brother: SMEI; Mother: Febrile seizures
Age of seizure onset Unknown
Short descriptions for Cases
References Margherita Mancardi, Maria, et al. "Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations." Epilepsia 47.10 (2006): 1629-1635.
co-existing variant(s)