Variant (rsID / SNP)

rs3729754

rs3729754 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NKX2-5. Location: chromosome 5, position 172,659,915. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NKX2-5Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:172659915
Cytoband: 5q35.1
HGVS: NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu)
Allele change: Silent

Associated conditions / phenotypes

Atrial septal defect 7

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.