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 Heterozygous
AA change -
AA alteration type Whole gene deletion
Detection methods Gene panel, PCR-Sanger, microarray
Known variant
Reference ID
MAF in 1000G
MAF in genomAD
Exon/Intron Exon1
Protein Domain -
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis Malignant migrating partial seizure of infancy
Gender Female
Ethnogenesis Japanese
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Kodera, Hirofumi, et al. "Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy." Epilepsia 54.7 (2013): 1262-1269.
co-existing variant(s)