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c.4002+1195_4284+346delinsTATT: Micro-deletions

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.4002+1195_4284+346delinsTATT
cds alteration type Micro-deletion
Zygosis Heterozygous
AA change -
AA alteration type Micro-deletions
Detection methods MLPA
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Intron20
Protein Domain -
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Unknown
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Mulley, John C., et al. "A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A." Neurology 67.6 (2006): 1094-1095.
co-existing variant(s)