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c.1378-?_6030+?dup: Micro-duplication

Reference genomes Human GRCh37/hg19
Genomic position -
Ref/Alt -
Genbank transcript ID NM_001165963.1
cds change c.1378-?_6030+?dup
cds alteration type Micro-duplication
Zygosis Heterozygous
AA change -
AA alteration type Micro-duplication
Detection methods aCGH, MLPA, PCR-Sanger
Known variant
Reference ID
MAF in 1000G
MAF in ExAC
MAF in genomAD
Exon/Intron Exon10
Protein Domain -
Inheritance Inherited
Variant Classification Pathogenic
Clinical diagnosis Benign familial neonatal seizures
Gender Male
Ethnogenesis Anglo-Saxon
Family history Father: Convulsions; Mother: Neonatal seizures; Brother; Intellectual disability; Sisters: Neonatal seizures, Intellectual disability
Age of seizure onset 0 month old
Short descriptions for Cases Uncertain variant location
References Heron, Sarah E., et al. "Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24. 3." Epilepsia 51.9 (2010): 1865-1869.
co-existing variant(s)