Gene entry
NKX2-5
NK2 homeobox 5
- Chromosome
- 5
- Cytoband
- 5q35.1
- Variants (rsID)
- 10
NKX2-5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q35.1). Its official name is “NK2 homeobox 5”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs703752Benignsingle nucleotide variant
- rs104893904Conflicting interpretationssingle nucleotide variantTetralogy of Fallot|Congenital heart disease|Cardiovascular phenotype|Atrial septal defect 7
- rs28936670Conflicting interpretationssingle nucleotide variantTetralogy of Fallot|Hypothyroidism, congenital, nongoitrous, 5|Aortic arch interruption|Hypoplastic left heart syndrome 2|Truncus arteriosus|Congenital heart disease|Cardiovascular phenotype|Atrial septal defect 7
- rs3729754Conflicting interpretationssingle nucleotide variantAtrial septal defect 7
- rs77612903Conflicting interpretationssingle nucleotide variantAtrial septal defect 7|Cardiovascular phenotype
- rs113818864Likely benignsingle nucleotide variantAtrial septal defect 7
- rs104893901Pathogenicsingle nucleotide variantAtrial septal defect 7
- rs864321649Pathogenicsingle nucleotide variantCongenital heart disease
- rs375086983Uncertain significancesingle nucleotide variantVentricular septal defect 3|Atrial septal defect 7
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.