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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 Heterozygous
AA change -
AA alteration type Whole gene deletion
Detection methods PCR-Sanger, multiplex amplicon quantification (MAQ) assays, FISH
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon1
Protein Domain -
Inheritance Mosaic
Variant Classification Pathogenic
Clinical diagnosis Epilepsy
Gender Female
Ethnogenesis Bulgarian
Family history Daughter: Epilepsy; grandson: Epilepsy; Sister: Epilepsy
Age of seizure onset Unknown
Short descriptions for Cases
References Suls, A., et al. "Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene." Neurology 75.1 (2010): 72-76.
co-existing variant(s)