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c.1-?_6030+?dup: Others

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.1-?_6030+?dup
cds alteration type Others
Zygosis Unknown
AA change -
AA alteration type Others
Detection methods aCGH, FISH
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon1
Protein Domain -
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Refractory neonatal epilepsy
Gender Female
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 0 month old
Short descriptions for Cases Whole gene duplication
References Okumura, Akihisa, et al. "Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24. 2q24. 3." Epilepsia 52.7 (2011).
co-existing variant(s)