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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
Zygosis Heterozygous
AA change -
AA alteration type Whole gene deletion
Detection methods PCR-Sanger, MLPA, aCGH
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon1
Protein Domain
Inheritance Unknown
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Japanese
Family history Positive
Age of seizure onset 4 months old
Short descriptions for Cases
References Wang, Ji‐wen, et al. "Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy." Epilepsia 49.9 (2008): 1528-1534.
co-existing variant(s)