Variant (rsID / SNP)

rs864321649

rs864321649 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NKX2-5. Location: chromosome 5, position 172,660,104. Clinical significance in the table: Pathogenic.

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Reference-table entries

NKX2-5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:172660104
Cytoband: 5q35.1
HGVS: NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu)
Allele change: Silent

Associated conditions / phenotypes

Congenital heart disease

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.