Variant (rsID / SNP)
rs28936670
rs28936670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NKX2-5. Location: chromosome 5, position 172,662,014. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NKX2-5Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:172662014
- Cytoband
- 5q35.1
- HGVS
- NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
- Allele change
- Missense_R25C
Associated conditions / phenotypes
Tetralogy 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.