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c.1-?_6030+?disrupt: Others

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.1-?_6030+?disrupt
cds alteration type
Zygosis
AA change -
AA alteration type Others
Detection methods aCGH
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 SMEI
Gender Female
Ethnogenesis Unknown
Family history Negative
Age of seizure onset 4 months old
Short descriptions for Cases Balanced translocation
References Møller, Rikke S., et al. "Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A." Epilepsia 49.6 (2008): 1091-1094.
co-existing variant(s)