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c.1-?_6030+?del: Whole gene deletion

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.1-?_6030+?del
cds alteration type Whole gene deletion
Zygosis Unknown
AA change -
AA alteration type Whole gene deletion
Detection methods aCGH, qPCR
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon1
Protein Domain -
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis Epilepsy , Dysmorphic features, Developmental delay
Gender Female
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 3 months old
Short descriptions for Cases
References Pescucci, C., et al. "2q24?q31 deletion: report of a case and review of the literature." European journal of medical genetics 50.1 (2007): 21-32.
co-existing variant(s)