Gene entry
CHD2
chromodomain helicase DNA binding protein 2
- Chromosome
- 15
- Cytoband
- 15q26.1
- Variants (rsID)
- 32
CHD2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q26.1). Its official name is “chromodomain helicase DNA binding protein 2”. The reference table lists 32 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs143431217Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy 94
- rs146655995Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy 94
- rs201950393Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy 94
- rs2272457Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy 94
- rs201628571Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy 94
- rs565686460Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy 94
- rs398123000Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy 94
- rs864309547Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy 94|Inborn genetic diseases
- rs200830337Uncertain significancesingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
