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c.265-?_383+?del: p.Thr89Ilefs*21: Micro-deletions

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.265-?_383+?del
cds alteration type Micro-deletion
Zygosis Heterozygous
AA change p.Thr89Ilefs*21
AA alteration type Micro-deletions
Detection methods Unknown
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon2
Protein Domain N-terminus
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Unknown
Ethnogenesis Italian
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Corrected c.265-?_377+?del; p.T89_S128del
References Orrico, A., et al. "Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies." Clinical genetics 75.6 (2009): 579-581.
co-existing variant(s)