<<BACK

c.1-?_2415+?del: Micro-deletions

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.1-?_2415+?del
cds alteration type Micro-deletion
Zygosis Unknown
AA change -
AA alteration type Micro-deletions
Detection methods 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 Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 10 months old
Short descriptions for Cases
References Marini, Carla, et al. "SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis." Epilepsia 50.7 (2009): 1670-1678.
co-existing variant(s)